Canonical Allele Identifier: CA367578270
Community Standard Title: NM_005228.5(EGFR):c.1045C>G (p.Leu349Val)
Gene: EGFR HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.55156571C>G , CM000669.2:g.55156571C>G GRCh38
NC_000007.13:g.55224264C>G , CM000669.1:g.55224264C>G GRCh37
NC_000007.12:g.55191758C>G NCBI36
NG_007726.3:g.142540C>G , LRG_304:g.142540C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005228.5:c.1045C>G MANE Select NP_005219.2:p.Leu349Val
ENST00000275493.7:c.1045C>G MANE Select ENSP00000275493.2:p.Leu349Val
NM_001346897.1:c.910C>G NP_001333826.1:p.Leu304Val
NM_001346897.2:c.910C>G NP_001333826.1:p.Leu304Val
NM_001346898.1:c.1045C>G NP_001333827.1:p.Leu349Val
NM_001346898.2:c.1045C>G NP_001333827.1:p.Leu349Val
NM_001346899.1:c.910C>G NP_001333828.1:p.Leu304Val
NM_001346899.2:c.910C>G NP_001333828.1:p.Leu304Val
NM_001346900.1:c.886C>G NP_001333829.1:p.Leu296Val
NM_001346900.2:c.886C>G NP_001333829.1:p.Leu296Val
NM_001346941.1:c.244C>G NP_001333870.1:p.Leu82Val
NM_001346941.2:c.244C>G NP_001333870.1:p.Leu82Val
NM_005228.3:c.1045C>G , LRG_304t1:c.1045C>G NP_005219.2:p.Leu349Val
NM_005228.4:c.1045C>G NP_005219.2:p.Leu349Val
NM_201282.1:c.1045C>G NP_958439.1:p.Leu349Val
NM_201282.2:c.1045C>G NP_958439.1:p.Leu349Val
NM_201283.1:c.1045C>G NP_958440.1:p.Leu349Val
NM_201283.2:c.1045C>G NP_958440.1:p.Leu349Val
NM_201284.1:c.1045C>G NP_958441.1:p.Leu349Val
NM_201284.2:c.1045C>G NP_958441.1:p.Leu349Val
ENST00000275493.6:c.1045C>G ENSP00000275493.2:p.Leu349Val
ENST00000342916.7:c.1045C>G ENSP00000342376.3:p.Leu349Val
ENST00000344576.6:c.1045C>G ENSP00000345973.2:p.Leu349Val
ENST00000344576.7:c.1045C>G ENSP00000345973.2:p.Leu349Val
ENST00000420316.6:c.1045C>G ENSP00000413843.2:p.Leu349Val
ENST00000442591.5:c.1045C>G ENSP00000410031.1:p.Leu349Val
ENST00000450046.2:c.886C>G ENSP00000413354.2:p.Leu296Val
ENST00000454757.6:c.910C>G ENSP00000395243.3:p.Leu304Val
ENST00000455089.5:c.910C>G ENSP00000415559.1:p.Leu304Val
ENST00000700144.1:n.1821C>G
Search 100 bp 5'
Search 100 bp 3'