Canonical Allele Identifier: CA2670526597

Gene: GABRA4 GABRB1

Linked Data

• gnomAD v4: 4-46993647-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993647A>C , CM000666.2:g.46993647A>C	GRCh38
NC_000004.11:g.46995664A>C , CM000666.1:g.46995664A>C	GRCh37
NC_000004.10:g.46690421A>C	NCBI36
NG_011809.1:g.4917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.3:c.-223T>G (GABRA4)	ENSP00000264318.3:n.-223T>G
NM_000809.3:c.-223T>G (GABRA4)	NP_000800.2:n.-223T>G
XM_011513677.1:c.-223T>G (GABRA4)	XP_011511979.1:n.-223T>G
XM_024453976.1:c.-333A>C (GABRB1)	XP_024309744.1:n.-333A>C
XM_024453977.1:c.-371A>C (GABRB1)	XP_024309745.1:n.-371A>C