Canonical Allele Identifier: CA96640944
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs952447847
gnomAD v3: 4-46993557-C-T
gnomAD v4: 4-46993557-C-T
MyVariant Identifiers: chr4:g.46995574C>T (hg19) chr4:g.46993557C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993557C>T , CM000666.2:g.46993557C>T GRCh38
NC_000004.11:g.46995574C>T , CM000666.1:g.46995574C>T GRCh37
NC_000004.10:g.46690331C>T NCBI36
NG_011809.1:g.5007G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.-133G>A MANE Select ENSP00000264318.3:n.-133G>A
ENST00000264318.3:c.-133G>A ENSP00000264318.3:n.-133G>A
NM_000809.3:c.-133G>A NP_000800.2:n.-133G>A
XM_011513677.1:c.-133G>A XP_011511979.1:n.-133G>A
NM_000809.4:c.-133G>A MANE Select NP_000800.2:n.-133G>A
NM_001204266.2:c.-122G>A NP_001191195.1:n.-122G>A
NM_001204267.2:c.-122G>A NP_001191196.1:n.-122G>A
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