Canonical Allele Identifier: CA439168501

Gene: GABRA4

Linked Data

• dbSNP Id: rs1245146929
• gnomAD v2: 4-46995370-C-T
• gnomAD v4: 4-46993353-C-T
• MyVariant Identifiers: chr4:g.46995370C>T (hg19) ; chr4:g.46993353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993353C>T , CM000666.2:g.46993353C>T	GRCh38
NC_000004.11:g.46995370C>T , CM000666.1:g.46995370C>T	GRCh37
NC_000004.10:g.46690127C>T	NCBI36
NG_011809.1:g.5211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.72G>A MANE Select	ENSP00000264318.3:p.Leu24=
ENST00000264318.3:c.72G>A	ENSP00000264318.3:p.Leu24=
ENST00000502874.1:c.72G>A	ENSP00000424386.1:p.Leu24=
ENST00000508560.5:c.18+54G>A	ENSP00000425445.1:n.18+54G>A
ENST00000509316.1:n.196G>A
ENST00000511523.5:c.18+54G>A	ENSP00000422152.1:n.18+54G>A
NM_000809.3:c.72G>A	NP_000800.2:p.Leu24=
NM_001204266.1:c.29+54G>A	NP_001191195.1:n.29+54G>A
NM_001204267.1:c.29+54G>A	NP_001191196.1:n.29+54G>A
XM_011513677.1:c.72G>A	XP_011511979.1:p.Leu24=
NM_000809.4:c.72G>A MANE Select	NP_000800.2:p.Leu24=
NM_001204266.2:c.29+54G>A	NP_001191195.1:n.29+54G>A
NM_001204267.2:c.29+54G>A	NP_001191196.1:n.29+54G>A