Canonical Allele Identifier: CA1455119329
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1723866679
gnomAD v4: 4-46993648-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993648A>G , CM000666.2:g.46993648A>G GRCh38
NC_000004.11:g.46995665A>G , CM000666.1:g.46995665A>G GRCh37
NC_000004.10:g.46690422A>G NCBI36
NG_011809.1:g.4916T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-224T>C (GABRA4) ENSP00000264318.3:n.-224T>C
NM_000809.3:c.-224T>C (GABRA4) NP_000800.2:n.-224T>C
XM_011513677.1:c.-224T>C (GABRA4) XP_011511979.1:n.-224T>C
XM_024453976.1:c.-332A>G (GABRB1) XP_024309744.1:n.-332A>G
XM_024453977.1:c.-370A>G (GABRB1) XP_024309745.1:n.-370A>G