Canonical Allele Identifier: CA1061914815
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs1721275103
gnomAD v3: 4-46927695-T-C
gnomAD v4: 4-46927695-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927695T>C , CM000666.2:g.46927695T>C GRCh38
NC_000004.11:g.46929712T>C , CM000666.1:g.46929712T>C GRCh37
NC_000004.10:g.46624469T>C NCBI36
NG_011809.1:g.70869A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264318.4:c.*530A>G MANE Select ENSP00000264318.3:n.*530A>G
ENST00000264318.3:c.*530A>G ENSP00000264318.3:n.*530A>G
NM_000809.3:c.*530A>G NP_000800.2:n.*530A>G
NM_001204266.1:c.*530A>G NP_001191195.1:n.*530A>G
NM_001204267.1:c.*530A>G NP_001191196.1:n.*530A>G
XM_011513677.1:c.*530A>G XP_011511979.1:n.*530A>G
NM_000809.4:c.*530A>G MANE Select NP_000800.2:n.*530A>G
NM_001204266.2:c.*530A>G NP_001191195.1:n.*530A>G
NM_001204267.2:c.*530A>G NP_001191196.1:n.*530A>G