Canonical Allele Identifier: CA96640982

Gene: GABRA4 GABRB1

Linked Data

• dbSNP Id: rs944274455
• gnomAD v2: 4-46995607-G-C
• gnomAD v3: 4-46993590-G-C
• gnomAD v4: 4-46993590-G-C
• MyVariant Identifiers: chr4:g.46995607G>C (hg19) ; chr4:g.46993590G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993590G>C , CM000666.2:g.46993590G>C	GRCh38
NC_000004.11:g.46995607G>C , CM000666.1:g.46995607G>C	GRCh37
NC_000004.10:g.46690364G>C	NCBI36
NG_011809.1:g.4974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.3:c.-166C>G (GABRA4)	ENSP00000264318.3:n.-166C>G
NM_000809.3:c.-166C>G (GABRA4)	NP_000800.2:n.-166C>G
XM_011513677.1:c.-166C>G (GABRA4)	XP_011511979.1:n.-166C>G
XM_024453977.1:c.-428G>C (GABRB1)	XP_024309745.1:n.-428G>C