Canonical Allele Identifier: CA96639406

Gene: GABRA4

Linked Data

• dbSNP Id: rs973234255
• gnomAD v3: 4-46927632-G-A
• gnomAD v4: 4-46927632-G-A
• MyVariant Identifiers: chr4:g.46929649G>A (hg19) ; chr4:g.46927632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46927632G>A , CM000666.2:g.46927632G>A	GRCh38
NC_000004.11:g.46929649G>A , CM000666.1:g.46929649G>A	GRCh37
NC_000004.10:g.46624406G>A	NCBI36
NG_011809.1:g.70932C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264318.4:c.*593C>T MANE Select	ENSP00000264318.3:n.*593C>T
ENST00000264318.3:c.*593C>T	ENSP00000264318.3:n.*593C>T
NM_000809.3:c.*593C>T	NP_000800.2:n.*593C>T
NM_001204266.1:c.*593C>T	NP_001191195.1:n.*593C>T
NM_001204267.1:c.*593C>T	NP_001191196.1:n.*593C>T
XM_011513677.1:c.*593C>T	XP_011511979.1:n.*593C>T
NM_000809.4:c.*593C>T MANE Select	NP_000800.2:n.*593C>T
NM_001204266.2:c.*593C>T	NP_001191195.1:n.*593C>T
NM_001204267.2:c.*593C>T	NP_001191196.1:n.*593C>T