Canonical Allele Identifier: CA1969335960

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 694564
• ClinVar RCV Id: RCV001093567
• dbSNP Id: rs2095879705

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333738_47333739del , CM000673.2:g.47333738_47333739del	GRCh38
NC_000011.9:g.47355289_47355290del , CM000673.1:g.47355289_47355290del	GRCh37
NC_000011.8:g.47311865_47311866del	NCBI36
NG_007667.1:g.23965_23966del , LRG_386:g.23965_23966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3009_3010del MANE Select	ENSP00000442795.1:p.Gln1004GlyfsTer?
ENST00000256993.8:c.3009_3010del	ENSP00000256993.5:p.Gln1004GlyfsTer?
ENST00000399249.6:c.3009_3010del	ENSP00000382193.2:p.Gln1004GlyfsTer?
ENST00000545968.5:c.3009_3010del	ENSP00000442795.1:p.Gln1004GlyfsTer?
NM_000256.3:c.3009_3010del , LRG_386t1:c.3009_3010del MANE Select	NP_000247.2:p.Gln1004GlyfsTer?
XM_011520117.1:c.2991_2992del	XP_011518419.1:p.Gln998GlyfsTer?
XM_011520118.1:c.2928_2929del	XP_011518420.1:p.Gln977GlyfsTer?