Canonical Allele Identifier: CA96639423
Gene: GABRA4 HGNC NCBI

Linked Data

dbSNP Id: rs530856534
gnomAD v2: 4-46929679-T-G
gnomAD v3: 4-46927662-T-G
gnomAD v4: 4-46927662-T-G
MyVariant Identifiers: chr4:g.46929679T>G (hg19) chr4:g.46927662T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927662T>G , CM000666.2:g.46927662T>G GRCh38
NC_000004.11:g.46929679T>G , CM000666.1:g.46929679T>G GRCh37
NC_000004.10:g.46624436T>G NCBI36
NG_011809.1:g.70902A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.*563A>C MANE Select ENSP00000264318.3:n.*563A>C
ENST00000264318.3:c.*563A>C ENSP00000264318.3:n.*563A>C
NM_000809.3:c.*563A>C NP_000800.2:n.*563A>C
NM_001204266.1:c.*563A>C NP_001191195.1:n.*563A>C
NM_001204267.1:c.*563A>C NP_001191196.1:n.*563A>C
XM_011513677.1:c.*563A>C XP_011511979.1:n.*563A>C
NM_000809.4:c.*563A>C MANE Select NP_000800.2:n.*563A>C
NM_001204266.2:c.*563A>C NP_001191195.1:n.*563A>C
NM_001204267.2:c.*563A>C NP_001191196.1:n.*563A>C
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