Canonical Allele Identifier: CA96639436

Gene: GABRA4

Linked Data

• dbSNP Id: rs549259135
• gnomAD v3: 4-46927702-C-G
• gnomAD v4: 4-46927702-C-G
• MyVariant Identifiers: chr4:g.46929719C>G (hg19) ; chr4:g.46927702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46927702C>G , CM000666.2:g.46927702C>G	GRCh38
NC_000004.11:g.46929719C>G , CM000666.1:g.46929719C>G	GRCh37
NC_000004.10:g.46624476C>G	NCBI36
NG_011809.1:g.70862G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264318.4:c.*523G>C MANE Select	ENSP00000264318.3:n.*523G>C
ENST00000264318.3:c.*523G>C	ENSP00000264318.3:n.*523G>C
NM_000809.3:c.*523G>C	NP_000800.2:n.*523G>C
NM_001204266.1:c.*523G>C	NP_001191195.1:n.*523G>C
NM_001204267.1:c.*523G>C	NP_001191196.1:n.*523G>C
XM_011513677.1:c.*523G>C	XP_011511979.1:n.*523G>C
NM_000809.4:c.*523G>C MANE Select	NP_000800.2:n.*523G>C
NM_001204266.2:c.*523G>C	NP_001191195.1:n.*523G>C
NM_001204267.2:c.*523G>C	NP_001191196.1:n.*523G>C