Canonical Allele Identifier: CA439245813

Gene: GABRB1

Linked Data

• dbSNP Id: rs1728587738
• gnomAD v3: 4-47406797-G-A
• gnomAD v4: 4-47406797-G-A
• MyVariant Identifiers: chr4:g.47408814G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406797G>A , CM000666.2:g.47406797G>A	GRCh38
NC_000004.11:g.47408814G>A , CM000666.1:g.47408814G>A	GRCh37
NC_000004.10:g.47103571G>A	NCBI36
NG_051831.1:g.380520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.951G>A MANE Select	ENSP00000295454.3:p.Val317=
ENST00000295454.7:c.951G>A	ENSP00000295454.3:p.Val317=
NM_000812.3:c.951G>A	NP_000803.2:p.Val317=
XM_011513678.1:c.930G>A	XP_011511980.1:p.Val310=
XM_017007985.1:c.300G>A	XP_016863474.1:p.Val100=
XM_024453976.1:c.852G>A	XP_024309744.1:p.Val284=
XM_024453977.1:c.852G>A	XP_024309745.1:p.Val284=
XM_024453978.1:c.852G>A	XP_024309746.1:p.Val284=
NM_000812.4:c.951G>A MANE Select	NP_000803.2:p.Val317=