Canonical Allele Identifier: CA795413052
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1410655676
gnomAD v4: 4-46993651-T-C
MyVariant Identifiers: chr4:g.46995668T>C (hg19) chr4:g.46993651T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993651T>C , CM000666.2:g.46993651T>C GRCh38
NC_000004.11:g.46995668T>C , CM000666.1:g.46995668T>C GRCh37
NC_000004.10:g.46690425T>C NCBI36
NG_011809.1:g.4913A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-227A>G (GABRA4) ENSP00000264318.3:n.-227A>G
NM_000809.3:c.-227A>G (GABRA4) NP_000800.2:n.-227A>G
XM_011513677.1:c.-227A>G (GABRA4) XP_011511979.1:n.-227A>G
XM_024453976.1:c.-329T>C (GABRB1) XP_024309744.1:n.-329T>C
XM_024453977.1:c.-367T>C (GABRB1) XP_024309745.1:n.-367T>C
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