Canonical Allele Identifier: CA2907359
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs767495129
gnomAD v2: 4-46995430-G-C
gnomAD v4: 4-46993413-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993413G>C , CM000666.2:g.46993413G>C GRCh38
NC_000004.11:g.46995430G>C , CM000666.1:g.46995430G>C GRCh37
NC_000004.10:g.46690187G>C NCBI36
NG_011809.1:g.5151C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.12C>G MANE Select ENSP00000264318.3:p.Ala4=
ENST00000264318.3:c.12C>G ENSP00000264318.3:p.Ala4=
ENST00000502874.1:c.12C>G ENSP00000424386.1:p.Ala4=
ENST00000508560.5:c.12C>G ENSP00000425445.1:p.Ala4=
ENST00000509316.1:n.136C>G
ENST00000511523.5:c.12C>G ENSP00000422152.1:p.Ala4=
NM_000809.3:c.12C>G NP_000800.2:p.Ala4=
NM_001204266.1:c.23C>G NP_001191195.1:p.Pro8Arg
NM_001204267.1:c.23C>G NP_001191196.1:p.Pro8Arg
XM_011513677.1:c.12C>G XP_011511979.1:p.Ala4=
NM_000809.4:c.12C>G MANE Select NP_000800.2:p.Ala4=
NM_001204266.2:c.23C>G NP_001191195.1:p.Pro8Arg
NM_001204267.2:c.23C>G NP_001191196.1:p.Pro8Arg