Canonical Allele Identifier: CA96639340

Gene: GABRA4

Linked Data

• dbSNP Id: rs545035499
• gnomAD v2: 4-46929505-A-G
• gnomAD v3: 4-46927488-A-G
• gnomAD v4: 4-46927488-A-G
• MyVariant Identifiers: chr4:g.46929505A>G (hg19) ; chr4:g.46927488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46927488A>G , CM000666.2:g.46927488A>G	GRCh38
NC_000004.11:g.46929505A>G , CM000666.1:g.46929505A>G	GRCh37
NC_000004.10:g.46624262A>G	NCBI36
NG_011809.1:g.71076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.*737T>C MANE Select	ENSP00000264318.3:n.*737T>C
ENST00000264318.3:c.*737T>C	ENSP00000264318.3:n.*737T>C
NM_000809.3:c.*737T>C	NP_000800.2:n.*737T>C
NM_001204266.1:c.*737T>C	NP_001191195.1:n.*737T>C
NM_001204267.1:c.*737T>C	NP_001191196.1:n.*737T>C
XM_011513677.1:c.*737T>C	XP_011511979.1:n.*737T>C
NM_000809.4:c.*737T>C MANE Select	NP_000800.2:n.*737T>C
NM_001204266.2:c.*737T>C	NP_001191195.1:n.*737T>C
NM_001204267.2:c.*737T>C	NP_001191196.1:n.*737T>C