Canonical Allele Identifier: CA356812009
Gene: GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-47406906-C-G
MyVariant Identifiers: chr4:g.47408923C>G (hg19) chr4:g.47406906C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47406906C>G , CM000666.2:g.47406906C>G GRCh38
NC_000004.11:g.47408923C>G , CM000666.1:g.47408923C>G GRCh37
NC_000004.10:g.47103680C>G NCBI36
NG_051831.1:g.380629C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000295454.8:c.1060C>G MANE Select ENSP00000295454.3:p.Leu354Val
ENST00000295454.7:c.1060C>G ENSP00000295454.3:p.Leu354Val
NM_000812.3:c.1060C>G NP_000803.2:p.Leu354Val
XM_011513678.1:c.1039C>G XP_011511980.1:p.Leu347Val
XM_017007985.1:c.409C>G XP_016863474.1:p.Leu137Val
XM_024453976.1:c.961C>G XP_024309744.1:p.Leu321Val
XM_024453977.1:c.961C>G XP_024309745.1:p.Leu321Val
XM_024453978.1:c.961C>G XP_024309746.1:p.Leu321Val
NM_000812.4:c.1060C>G MANE Select NP_000803.2:p.Leu354Val
Search 100 bp 5'
Search 100 bp 3'