Canonical Allele Identifier: CA356777713

Gene: GABRA4

Linked Data

• dbSNP Id: rs1218356063
• gnomAD v2: 4-46995363-C-G
• gnomAD v4: 4-46993346-C-G
• MyVariant Identifiers: chr4:g.46995363C>G (hg19) ; chr4:g.46993346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993346C>G , CM000666.2:g.46993346C>G	GRCh38
NC_000004.11:g.46995363C>G , CM000666.1:g.46995363C>G	GRCh37
NC_000004.10:g.46690120C>G	NCBI36
NG_011809.1:g.5218G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.79G>C MANE Select	ENSP00000264318.3:p.Ala27Pro
ENST00000264318.3:c.79G>C	ENSP00000264318.3:p.Ala27Pro
ENST00000502874.1:c.79G>C	ENSP00000424386.1:p.Ala27Pro
ENST00000508560.5:c.18+61G>C	ENSP00000425445.1:n.18+61G>C
ENST00000509316.1:n.203G>C
ENST00000511523.5:c.18+61G>C	ENSP00000422152.1:n.18+61G>C
NM_000809.3:c.79G>C	NP_000800.2:p.Ala27Pro
NM_001204266.1:c.29+61G>C	NP_001191195.1:n.29+61G>C
NM_001204267.1:c.29+61G>C	NP_001191196.1:n.29+61G>C
XM_011513677.1:c.79G>C	XP_011511979.1:p.Ala27Pro
NM_000809.4:c.79G>C MANE Select	NP_000800.2:p.Ala27Pro
NM_001204266.2:c.29+61G>C	NP_001191195.1:n.29+61G>C
NM_001204267.2:c.29+61G>C	NP_001191196.1:n.29+61G>C