Canonical Allele Identifier: CA96640666

Gene: GABRA4

Linked Data

• dbSNP Id: rs1047722752
• gnomAD v4: 4-46993280-C-T
• MyVariant Identifiers: chr4:g.46995297C>T (hg19) ; chr4:g.46993280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993280C>T , CM000666.2:g.46993280C>T	GRCh38
NC_000004.11:g.46995297C>T , CM000666.1:g.46995297C>T	GRCh37
NC_000004.10:g.46690054C>T	NCBI36
NG_011809.1:g.5284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.86+59G>A MANE Select	ENSP00000264318.3:n.86+59G>A
ENST00000264318.3:c.86+59G>A	ENSP00000264318.3:n.86+59G>A
ENST00000502874.1:c.86+59G>A	ENSP00000424386.1:n.86+59G>A
ENST00000508560.5:c.18+127G>A	ENSP00000425445.1:n.18+127G>A
ENST00000509316.1:n.210+59G>A
ENST00000511523.5:c.18+127G>A	ENSP00000422152.1:n.18+127G>A
NM_000809.3:c.86+59G>A	NP_000800.2:n.86+59G>A
NM_001204266.1:c.29+127G>A	NP_001191195.1:n.29+127G>A
NM_001204267.1:c.29+127G>A	NP_001191196.1:n.29+127G>A
XM_011513677.1:c.86+59G>A	XP_011511979.1:n.86+59G>A
NM_000809.4:c.86+59G>A MANE Select	NP_000800.2:n.86+59G>A
NM_001204266.2:c.29+127G>A	NP_001191195.1:n.29+127G>A
NM_001204267.2:c.29+127G>A	NP_001191196.1:n.29+127G>A