Canonical Allele Identifier: CA2670526628

Gene: GABRA4 GABRB1

Linked Data

• gnomAD v4: 4-46993667-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993667T>C , CM000666.2:g.46993667T>C	GRCh38
NC_000004.11:g.46995684T>C , CM000666.1:g.46995684T>C	GRCh37
NC_000004.10:g.46690441T>C	NCBI36
NG_011809.1:g.4897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.3:c.-243A>G (GABRA4)	ENSP00000264318.3:n.-243A>G
NM_000809.3:c.-243A>G (GABRA4)	NP_000800.2:n.-243A>G
XM_011513677.1:c.-243A>G (GABRA4)	XP_011511979.1:n.-243A>G
XM_024453976.1:c.-313T>C (GABRB1)	XP_024309744.1:n.-313T>C
XM_024453977.1:c.-351T>C (GABRB1)	XP_024309745.1:n.-351T>C