Canonical Allele Identifier: CA916081645

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 843438
• ClinVar RCV Id: RCV001046065
• dbSNP Id: rs2095886408

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339732_47339733delinsCG , CM000673.2:g.47339732_47339733delinsCG	GRCh38
NC_000011.9:g.47361283_47361284delinsCG , CM000673.1:g.47361283_47361284delinsCG	GRCh37
NC_000011.8:g.47317859_47317860delinsCG	NCBI36
NG_007667.1:g.17970_17971delinsCG , LRG_386:g.17970_17971delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1985_1986delinsCG MANE Select	ENSP00000442795.1:p.Val662Ala
ENST00000256993.8:c.1985_1986delinsCG	ENSP00000256993.5:p.Val662Ala
ENST00000399249.6:c.1985_1986delinsCG	ENSP00000382193.2:p.Val662Ala
ENST00000544791.1:c.1985_1986delinsCG	ENSP00000444259.1:p.Val662Ala
ENST00000545968.5:c.1985_1986delinsCG	ENSP00000442795.1:p.Val662Ala
NM_000256.3:c.1985_1986delinsCG , LRG_386t1:c.1985_1986delinsCG MANE Select	NP_000247.2:p.Val662Ala
XM_011520117.1:c.1967_1968delinsCG	XP_011518419.1:p.Val656Ala
XM_011520118.1:c.1985_1986delinsCG	XP_011518420.1:p.Val662Ala