Canonical Allele Identifier: CA795431179

Gene: GABRA4

Linked Data

• dbSNP Id: rs16859788
• gnomAD v3: 4-46969992-A-T
• gnomAD v4: 4-46969992-A-T
• MyVariant Identifiers: chr4:g.46972009A>T (hg19) ; chr4:g.46969992A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46969992A>T , CM000666.2:g.46969992A>T	GRCh38
NC_000004.11:g.46972009A>T , CM000666.1:g.46972009A>T	GRCh37
NC_000004.10:g.46666766A>T	NCBI36
NG_011809.1:g.28572T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264318.4:c.874+1091T>A MANE Select	ENSP00000264318.3:n.874+1091T>A
ENST00000264318.3:c.874+1091T>A	ENSP00000264318.3:n.874+1091T>A
ENST00000508560.5:c.*695+1091T>A	ENSP00000425445.1:n.*695+1091T>A
ENST00000511523.5:c.*542+4240T>A	ENSP00000422152.1:n.*542+4240T>A
NM_000809.3:c.874+1091T>A	NP_000800.2:n.874+1091T>A
NM_001204266.1:c.817+1091T>A	NP_001191195.1:n.817+1091T>A
NM_001204267.1:c.664+4240T>A	NP_001191196.1:n.664+4240T>A
XM_011513677.1:c.721+4240T>A	XP_011511979.1:n.721+4240T>A
NM_000809.4:c.874+1091T>A MANE Select	NP_000800.2:n.874+1091T>A
NM_001204266.2:c.817+1091T>A	NP_001191195.1:n.817+1091T>A
NM_001204267.2:c.664+4240T>A	NP_001191196.1:n.664+4240T>A