Canonical Allele Identifier: CA1061914732
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs1721270465
gnomAD v3: 4-46927547-G-A
gnomAD v4: 4-46927547-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927547G>A , CM000666.2:g.46927547G>A GRCh38
NC_000004.11:g.46929564G>A , CM000666.1:g.46929564G>A GRCh37
NC_000004.10:g.46624321G>A NCBI36
NG_011809.1:g.71017C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264318.4:c.*678C>T MANE Select ENSP00000264318.3:n.*678C>T
ENST00000264318.3:c.*678C>T ENSP00000264318.3:n.*678C>T
NM_000809.3:c.*678C>T NP_000800.2:n.*678C>T
NM_001204266.1:c.*678C>T NP_001191195.1:n.*678C>T
NM_001204267.1:c.*678C>T NP_001191196.1:n.*678C>T
XM_011513677.1:c.*678C>T XP_011511979.1:n.*678C>T
NM_000809.4:c.*678C>T MANE Select NP_000800.2:n.*678C>T
NM_001204266.2:c.*678C>T NP_001191195.1:n.*678C>T
NM_001204267.2:c.*678C>T NP_001191196.1:n.*678C>T