Canonical Allele Identifier: CA795413056
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1350299053
gnomAD v3: 4-46993652-G-A
gnomAD v4: 4-46993652-G-A
MyVariant Identifiers: chr4:g.46995669G>A (hg19) chr4:g.46993652G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993652G>A , CM000666.2:g.46993652G>A GRCh38
NC_000004.11:g.46995669G>A , CM000666.1:g.46995669G>A GRCh37
NC_000004.10:g.46690426G>A NCBI36
NG_011809.1:g.4912C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-228C>T (GABRA4) ENSP00000264318.3:n.-228C>T
NM_000809.3:c.-228C>T (GABRA4) NP_000800.2:n.-228C>T
XM_011513677.1:c.-228C>T (GABRA4) XP_011511979.1:n.-228C>T
XM_024453976.1:c.-328G>A (GABRB1) XP_024309744.1:n.-328G>A
XM_024453977.1:c.-366G>A (GABRB1) XP_024309745.1:n.-366G>A
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