Canonical Allele Identifier: CA439168712

Gene: GABRA4

Linked Data

• dbSNP Id: rs1228512623
• gnomAD v2: 4-46995421-T-G
• gnomAD v4: 4-46993404-T-G
• MyVariant Identifiers: chr4:g.46995421T>G (hg19) ; chr4:g.46993404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993404T>G , CM000666.2:g.46993404T>G	GRCh38
NC_000004.11:g.46995421T>G , CM000666.1:g.46995421T>G	GRCh37
NC_000004.10:g.46690178T>G	NCBI36
NG_011809.1:g.5160A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.21A>C MANE Select	ENSP00000264318.3:p.Val7=
ENST00000264318.3:c.21A>C	ENSP00000264318.3:p.Val7=
ENST00000502874.1:c.21A>C	ENSP00000424386.1:p.Val7=
ENST00000508560.5:c.18+3A>C	ENSP00000425445.1:n.18+3A>C
ENST00000509316.1:n.145A>C
ENST00000511523.5:c.18+3A>C	ENSP00000422152.1:n.18+3A>C
NM_000809.3:c.21A>C	NP_000800.2:p.Val7=
NM_001204266.1:c.29+3A>C	NP_001191195.1:n.29+3A>C
NM_001204267.1:c.29+3A>C	NP_001191196.1:n.29+3A>C
XM_011513677.1:c.21A>C	XP_011511979.1:p.Val7=
NM_000809.4:c.21A>C MANE Select	NP_000800.2:p.Val7=
NM_001204266.2:c.29+3A>C	NP_001191195.1:n.29+3A>C
NM_001204267.2:c.29+3A>C	NP_001191196.1:n.29+3A>C