Canonical Allele Identifier: CA174865

Gene: GABRG1

Linked Data

• ClinVar Variation Id: 161829
• ClinVar RCV Id: RCV000149365
• dbSNP Id: rs193920916
• ExAC: 4:46125899 G / A
• gnomAD v2: 4-46125899-G-A
• gnomAD v3: 4-46123882-G-A
• gnomAD v4: 4-46123882-G-A
• COSMIC: COSM1180166
• MyVariant Identifiers: chr4:g.46125899G>A (hg19) ; chr4:g.46123882G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46123882G>A , CM000666.2:g.46123882G>A	GRCh38
NC_000004.11:g.46125899G>A , CM000666.1:g.46125899G>A	GRCh37
NC_000004.10:g.45820656G>A	NCBI36
NG_046964.1:g.5184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295452.5:c.32C>T MANE Select	ENSP00000295452.4:p.Pro11Leu
ENST00000295452.4:c.32C>T	ENSP00000295452.4:p.Pro11Leu
NM_173536.3:c.32C>T	NP_775807.2:p.Pro11Leu
NM_173536.4:c.32C>T MANE Select	NP_775807.2:p.Pro11Leu