Canonical Allele Identifier: CA2670526633
Gene: GABRA4 HGNC NCBI
GABRB1 HGNC NCBI

Linked Data

gnomAD v4: 4-46993670-A-C

Genomic Alleles

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

Transcript Alleles

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