Canonical Allele Identifier: CA551262373

Gene: GABRG1

Linked Data

• dbSNP Id: rs573234028
• gnomAD v2: 4-46125785-G-A
• gnomAD v3: 4-46123768-G-A
• gnomAD v4: 4-46123768-G-A
• MyVariant Identifiers: chr4:g.46125785G>A (hg19) ; chr4:g.46123768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46123768G>A , CM000666.2:g.46123768G>A	GRCh38
NC_000004.11:g.46125785G>A , CM000666.1:g.46125785G>A	GRCh37
NC_000004.10:g.45820542G>A	NCBI36
NG_046964.1:g.5298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295452.5:c.104+42C>T MANE Select	ENSP00000295452.4:n.104+42C>T
ENST00000295452.4:c.104+42C>T	ENSP00000295452.4:n.104+42C>T
NM_173536.3:c.104+42C>T	NP_775807.2:n.104+42C>T
NM_173536.4:c.104+42C>T MANE Select	NP_775807.2:n.104+42C>T