Canonical Allele Identifier: CA174865
Gene: GABRG1 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'