Canonical Allele Identifier: CA795413035
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1364854851
gnomAD v3: 4-46993626-C-T
gnomAD v4: 4-46993626-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993626C>T , CM000666.2:g.46993626C>T GRCh38
NC_000004.11:g.46995643C>T , CM000666.1:g.46995643C>T GRCh37
NC_000004.10:g.46690400C>T NCBI36
NG_011809.1:g.4938G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-202G>A (GABRA4) ENSP00000264318.3:n.-202G>A
NM_000809.3:c.-202G>A (GABRA4) NP_000800.2:n.-202G>A
XM_011513677.1:c.-202G>A (GABRA4) XP_011511979.1:n.-202G>A
XM_024453977.1:c.-392C>T (GABRB1) XP_024309745.1:n.-392C>T