Canonical Allele Identifier: CA1455119349
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

dbSNP Id: rs1723868644
gnomAD v4: 4-46993670-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.46993670A>G , CM000666.2:g.46993670A>G GRCh38
NC_000004.11:g.46995687A>G , CM000666.1:g.46995687A>G GRCh37
NC_000004.10:g.46690444A>G NCBI36
NG_011809.1:g.4894T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264318.3:c.-246T>C (GABRA4) ENSP00000264318.3:n.-246T>C
NM_000809.3:c.-246T>C (GABRA4) NP_000800.2:n.-246T>C
XM_011513677.1:c.-246T>C (GABRA4) XP_011511979.1:n.-246T>C
XM_024453976.1:c.-310A>G (GABRB1) XP_024309744.1:n.-310A>G
XM_024453977.1:c.-348A>G (GABRB1) XP_024309745.1:n.-348A>G
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