Canonical Allele Identifier: CA2907367
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs757921405
gnomAD v2: 4-46995495-C-A
gnomAD v3: 4-46993478-C-A
gnomAD v4: 4-46993478-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993478C>A , CM000666.2:g.46993478C>A GRCh38
NC_000004.11:g.46995495C>A , CM000666.1:g.46995495C>A GRCh37
NC_000004.10:g.46690252C>A NCBI36
NG_011809.1:g.5086G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.-54G>T MANE Select ENSP00000264318.3:n.-54G>T
ENST00000264318.3:c.-54G>T ENSP00000264318.3:n.-54G>T
ENST00000502874.1:c.-54G>T ENSP00000424386.1:n.-54G>T
ENST00000508560.5:c.-54G>T ENSP00000425445.1:n.-54G>T
ENST00000509316.1:n.71G>T
ENST00000511523.5:c.-54G>T ENSP00000422152.1:n.-54G>T
NM_000809.3:c.-54G>T NP_000800.2:n.-54G>T
NM_001204266.1:c.-43G>T NP_001191195.1:n.-43G>T
NM_001204267.1:c.-43G>T NP_001191196.1:n.-43G>T
XM_011513677.1:c.-54G>T XP_011511979.1:n.-54G>T
NM_000809.4:c.-54G>T MANE Select NP_000800.2:n.-54G>T
NM_001204266.2:c.-43G>T NP_001191195.1:n.-43G>T
NM_001204267.2:c.-43G>T NP_001191196.1:n.-43G>T