Canonical Allele Identifier: CA15336528
Gene: GABRA4 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.46927651G>C
GRCh37 chr4:g.46929668G>C
gnomAD v2:
4:46929668 G / C
gnomAD v3:
4:46927651 G / C
gnomAD v4:
chr4-46927651-G-C
Joint Max Group AF 0.64351052 (EAS)
Genomes Max Group AF 0.6434363 (EAS)
Exomes Max Group AF 0.24022097 (NFE)
dbSNP:
7660336
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46927651G>C , CM000666.2:g.46927651G>C GRCh38
NC_000004.11:g.46929668G>C , CM000666.1:g.46929668G>C GRCh37
NC_000004.10:g.46624425G>C NCBI36
NG_011809.1:g.70913C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.4:c.*574C>G MANE Select ENSP00000264318.3:n.*574C>G
ENST00000264318.3:c.*574C>G ENSP00000264318.3:n.*574C>G
NM_000809.3:c.*574C>G NP_000800.2:n.*574C>G
NM_001204266.1:c.*574C>G NP_001191195.1:n.*574C>G
NM_001204267.1:c.*574C>G NP_001191196.1:n.*574C>G
XM_011513677.1:c.*574C>G XP_011511979.1:n.*574C>G
NM_000809.4:c.*574C>G MANE Select NP_000800.2:n.*574C>G
NM_001204266.2:c.*574C>G NP_001191195.1:n.*574C>G
NM_001204267.2:c.*574C>G NP_001191196.1:n.*574C>G
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