Canonical Allele Identifier: CA96641057
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1002763972
gnomAD v2: 4-46995689-C-T
gnomAD v3: 4-46993672-C-T
gnomAD v4: 4-46993672-C-T
MyVariant Identifiers: chr4:g.46995689C>T (hg19) chr4:g.46993672C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993672C>T , CM000666.2:g.46993672C>T GRCh38
NC_000004.11:g.46995689C>T , CM000666.1:g.46995689C>T GRCh37
NC_000004.10:g.46690446C>T NCBI36
NG_011809.1:g.4892G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-248G>A (GABRA4) ENSP00000264318.3:n.-248G>A
NM_000809.3:c.-248G>A (GABRA4) NP_000800.2:n.-248G>A
XM_011513677.1:c.-248G>A (GABRA4) XP_011511979.1:n.-248G>A
XM_024453976.1:c.-308C>T (GABRB1) XP_024309744.1:n.-308C>T
XM_024453977.1:c.-346C>T (GABRB1) XP_024309745.1:n.-346C>T
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