Canonical Allele Identifier: CA10588847

Gene: GABRB1

Linked Data

• ClinVar Variation Id: 265864
• ClinVar RCV Id: RCV000256350
• dbSNP Id: rs886039818
• MyVariant Identifiers: chr4:g.47408723C>T (hg19) ; chr4:g.47406706C>T (hg38)
• PubMed: PMID:27273810

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000295454.8:c.860C>T MANE Select	ENSP00000295454.3:p.Thr287Ile
ENST00000295454.7:c.860C>T	ENSP00000295454.3:p.Thr287Ile
NM_000812.3:c.860C>T	NP_000803.2:p.Thr287Ile
XM_011513678.1:c.839C>T	XP_011511980.1:p.Thr280Ile
XM_017007985.1:c.209C>T	XP_016863474.1:p.Thr70Ile
XM_024453976.1:c.761C>T	XP_024309744.1:p.Thr254Ile
XM_024453977.1:c.761C>T	XP_024309745.1:p.Thr254Ile
XM_024453978.1:c.761C>T	XP_024309746.1:p.Thr254Ile
NM_000812.4:c.860C>T MANE Select	NP_000803.2:p.Thr287Ile