Canonical Allele Identifier: CA356811460

Gene: GABRB1

Linked Data

• ClinVar Variation Id: 2095986
• ClinVar RCV Id: RCV003013942
• MyVariant Identifiers: chr4:g.47408780T>A (hg19) ; chr4:g.47406763T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406763T>A , CM000666.2:g.47406763T>A	GRCh38
NC_000004.11:g.47408780T>A , CM000666.1:g.47408780T>A	GRCh37
NC_000004.10:g.47103537T>A	NCBI36
NG_051831.1:g.380486T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295454.8:c.917T>A MANE Select	ENSP00000295454.3:p.Ile306Asn
ENST00000295454.7:c.917T>A	ENSP00000295454.3:p.Ile306Asn
NM_000812.3:c.917T>A	NP_000803.2:p.Ile306Asn
XM_011513678.1:c.896T>A	XP_011511980.1:p.Ile299Asn
XM_017007985.1:c.266T>A	XP_016863474.1:p.Ile89Asn
XM_024453976.1:c.818T>A	XP_024309744.1:p.Ile273Asn
XM_024453977.1:c.818T>A	XP_024309745.1:p.Ile273Asn
XM_024453978.1:c.818T>A	XP_024309746.1:p.Ile273Asn
NM_000812.4:c.917T>A MANE Select	NP_000803.2:p.Ile306Asn