Canonical Allele Identifier: CA551154195
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs1304826677
gnomAD v2: 4-46929544-A-G
gnomAD v3: 4-46927527-A-G
gnomAD v4: 4-46927527-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927527A>G , CM000666.2:g.46927527A>G GRCh38
NC_000004.11:g.46929544A>G , CM000666.1:g.46929544A>G GRCh37
NC_000004.10:g.46624301A>G NCBI36
NG_011809.1:g.71037T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264318.4:c.*698T>C MANE Select ENSP00000264318.3:n.*698T>C
ENST00000264318.3:c.*698T>C ENSP00000264318.3:n.*698T>C
NM_000809.3:c.*698T>C NP_000800.2:n.*698T>C
NM_001204266.1:c.*698T>C NP_001191195.1:n.*698T>C
NM_001204267.1:c.*698T>C NP_001191196.1:n.*698T>C
XM_011513677.1:c.*698T>C XP_011511979.1:n.*698T>C
NM_000809.4:c.*698T>C MANE Select NP_000800.2:n.*698T>C
NM_001204266.2:c.*698T>C NP_001191195.1:n.*698T>C
NM_001204267.2:c.*698T>C NP_001191196.1:n.*698T>C