Canonical Allele Identifier: CA379140332
Community Standard Title: NM_000218.3(KCNQ1):c.1870A>G (p.Thr624Ala)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847842A>G , CM000673.2:g.2847842A>G GRCh38
NC_000011.9:g.2869072A>G , CM000673.1:g.2869072A>G GRCh37
NC_000011.8:g.2825648A>G NCBI36
NG_008935.1:g.407852A>G , LRG_287:g.407852A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1870A>G (KCNQ1) MANE Select NP_000209.2:p.Thr624Ala
ENST00000155840.12:c.1870A>G (KCNQ1) MANE Select ENSP00000155840.2:p.Thr624Ala
NM_000218.2:c.1870A>G , LRG_287t1:c.1870A>G (KCNQ1) NP_000209.2:p.Thr624Ala
NM_181798.1:c.1489A>G , LRG_287t2:c.1489A>G (KCNQ1) NP_861463.1:p.Thr497Ala
NR_130721.1:n.778-7400T>C (KCNQ1-AS1)
ENST00000155840.9:c.1870A>G (KCNQ1) ENSP00000155840.2:p.Thr624Ala
ENST00000335475.5:c.1489A>G (KCNQ1) ENSP00000334497.5:p.Thr497Ala
ENST00000335475.6:c.1489A>G (KCNQ1) ENSP00000334497.5:p.Thr497Ala
ENST00000496887.7:c.1513A>G (KCNQ1) ENSP00000434560.2:p.Thr505Ala
ENST00000526095.1:n.377A>G (KCNQ1)
ENST00000526095.2:c.274A>G (KCNQ1) ENSP00000494939.1:p.Thr92Ala
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