Canonical Allele Identifier: CA551159514

Gene: GABRA4 GABRB1

Linked Data

• dbSNP Id: rs1295448278
• gnomAD v2: 4-46995680-T-C
• gnomAD v4: 4-46993663-T-C
• MyVariant Identifiers: chr4:g.46995680T>C (hg19) ; chr4:g.46993663T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.46993663T>C , CM000666.2:g.46993663T>C	GRCh38
NC_000004.11:g.46995680T>C , CM000666.1:g.46995680T>C	GRCh37
NC_000004.10:g.46690437T>C	NCBI36
NG_011809.1:g.4901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264318.3:c.-239A>G (GABRA4)	ENSP00000264318.3:n.-239A>G
NM_000809.3:c.-239A>G (GABRA4)	NP_000800.2:n.-239A>G
XM_011513677.1:c.-239A>G (GABRA4)	XP_011511979.1:n.-239A>G
XM_024453976.1:c.-317T>C (GABRB1)	XP_024309744.1:n.-317T>C
XM_024453977.1:c.-355T>C (GABRB1)	XP_024309745.1:n.-355T>C