Canonical Allele Identifier: CA356811259

Gene: GABRB1

Linked Data

• COSMIC: COSM5995332
• MyVariant Identifiers: chr4:g.47408723C>A (hg19) ; chr4:g.47406706C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47406706C>A , CM000666.2:g.47406706C>A	GRCh38
NC_000004.11:g.47408723C>A , CM000666.1:g.47408723C>A	GRCh37
NC_000004.10:g.47103480C>A	NCBI36
NG_051831.1:g.380429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.860C>A MANE Select	ENSP00000295454.3:p.Thr287Lys
ENST00000295454.7:c.860C>A	ENSP00000295454.3:p.Thr287Lys
NM_000812.3:c.860C>A	NP_000803.2:p.Thr287Lys
XM_011513678.1:c.839C>A	XP_011511980.1:p.Thr280Lys
XM_017007985.1:c.209C>A	XP_016863474.1:p.Thr70Lys
XM_024453976.1:c.761C>A	XP_024309744.1:p.Thr254Lys
XM_024453977.1:c.761C>A	XP_024309745.1:p.Thr254Lys
XM_024453978.1:c.761C>A	XP_024309746.1:p.Thr254Lys
NM_000812.4:c.860C>A MANE Select	NP_000803.2:p.Thr287Lys