Canonical Allele Identifier: CA551159498

Gene: GABRA4

Linked Data

• dbSNP Id: rs1352896505
• gnomAD v2: 4-46995453-G-T
• gnomAD v3: 4-46993436-G-T
• gnomAD v4: 4-46993436-G-T
• MyVariant Identifiers: chr4:g.46995453G>T (hg19) ; chr4:g.46993436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993436G>T , CM000666.2:g.46993436G>T	GRCh38
NC_000004.11:g.46995453G>T , CM000666.1:g.46995453G>T	GRCh37
NC_000004.10:g.46690210G>T	NCBI36
NG_011809.1:g.5128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.4:c.-12C>A MANE Select	ENSP00000264318.3:n.-12C>A
ENST00000264318.3:c.-12C>A	ENSP00000264318.3:n.-12C>A
ENST00000502874.1:c.-12C>A	ENSP00000424386.1:n.-12C>A
ENST00000508560.5:c.-12C>A	ENSP00000425445.1:n.-12C>A
ENST00000509316.1:n.113C>A
ENST00000511523.5:c.-12C>A	ENSP00000422152.1:n.-12C>A
NM_000809.3:c.-12C>A	NP_000800.2:n.-12C>A
NM_001204266.1:c.-1C>A	NP_001191195.1:n.-1C>A
NM_001204267.1:c.-1C>A	NP_001191196.1:n.-1C>A
XM_011513677.1:c.-12C>A	XP_011511979.1:n.-12C>A
NM_000809.4:c.-12C>A MANE Select	NP_000800.2:n.-12C>A
NM_001204266.2:c.-1C>A	NP_001191195.1:n.-1C>A
NM_001204267.2:c.-1C>A	NP_001191196.1:n.-1C>A