Canonical Allele Identifier: CA96641049
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1011518533
gnomAD v3: 4-46993664-A-C
gnomAD v4: 4-46993664-A-C
MyVariant Identifiers: chr4:g.46995681A>C (hg19) chr4:g.46993664A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993664A>C , CM000666.2:g.46993664A>C GRCh38
NC_000004.11:g.46995681A>C , CM000666.1:g.46995681A>C GRCh37
NC_000004.10:g.46690438A>C NCBI36
NG_011809.1:g.4900T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-240T>G (GABRA4) ENSP00000264318.3:n.-240T>G
NM_000809.3:c.-240T>G (GABRA4) NP_000800.2:n.-240T>G
XM_011513677.1:c.-240T>G (GABRA4) XP_011511979.1:n.-240T>G
XM_024453976.1:c.-316A>C (GABRB1) XP_024309744.1:n.-316A>C
XM_024453977.1:c.-354A>C (GABRB1) XP_024309745.1:n.-354A>C
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