Canonical Allele Identifier: CA97302388

Gene: GABRB1

Linked Data

• dbSNP Id: rs566033279
• gnomAD v2: 4-47408418-G-T
• gnomAD v3: 4-47406401-G-T
• gnomAD v4: 4-47406401-G-T
• MyVariant Identifiers: chr4:g.47408418G>T (hg19) ; chr4:g.47406401G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406401G>T , CM000666.2:g.47406401G>T	GRCh38
NC_000004.11:g.47408418G>T , CM000666.1:g.47408418G>T	GRCh37
NC_000004.10:g.47103175G>T	NCBI36
NG_051831.1:g.380124G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.836-281G>T MANE Select	ENSP00000295454.3:n.836-281G>T
ENST00000295454.7:c.836-281G>T	ENSP00000295454.3:n.836-281G>T
NM_000812.3:c.836-281G>T	NP_000803.2:n.836-281G>T
XM_011513678.1:c.815-281G>T	XP_011511980.1:n.815-281G>T
XM_017007985.1:c.185-281G>T	XP_016863474.1:n.185-281G>T
XM_024453976.1:c.737-281G>T	XP_024309744.1:n.737-281G>T
XM_024453977.1:c.737-281G>T	XP_024309745.1:n.737-281G>T
XM_024453978.1:c.737-281G>T	XP_024309746.1:n.737-281G>T
NM_000812.4:c.836-281G>T MANE Select	NP_000803.2:n.836-281G>T