Canonical Allele Identifier: CA96640876

Gene: GABRA4

Linked Data

• dbSNP Id: rs180908648
• gnomAD v3: 4-46993423-A-T
• gnomAD v4: 4-46993423-A-T
• MyVariant Identifiers: chr4:g.46995440A>T (hg19) ; chr4:g.46993423A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993423A>T , CM000666.2:g.46993423A>T	GRCh38
NC_000004.11:g.46995440A>T , CM000666.1:g.46995440A>T	GRCh37
NC_000004.10:g.46690197A>T	NCBI36
NG_011809.1:g.5141T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.2T>A MANE Select	ENSP00000264318.3:p.Met1Lys
ENST00000264318.3:c.2T>A	ENSP00000264318.3:p.Met1Lys
ENST00000502874.1:c.2T>A	ENSP00000424386.1:p.Met1Lys
ENST00000508560.5:c.2T>A	ENSP00000425445.1:p.Met1Lys
ENST00000509316.1:n.126T>A
ENST00000511523.5:c.2T>A	ENSP00000422152.1:p.Met1Lys
NM_000809.3:c.2T>A	NP_000800.2:p.Met1Lys
NM_001204266.1:c.13T>A	NP_001191195.1:p.Trp5Arg
NM_001204267.1:c.13T>A	NP_001191196.1:p.Trp5Arg
XM_011513677.1:c.2T>A	XP_011511979.1:p.Met1Lys
NM_000809.4:c.2T>A MANE Select	NP_000800.2:p.Met1Lys
NM_001204266.2:c.13T>A	NP_001191195.1:p.Trp5Arg
NM_001204267.2:c.13T>A	NP_001191196.1:p.Trp5Arg