Canonical Allele Identifier: CA599374101

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1177781586
• gnomAD v2: 11-47353707-AG-A
• MyVariant Identifiers: chr11:g.47353708del (hg19) ; chr11:g.47332157del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332159del , CM000673.2:g.47332159del	GRCh38
NC_000011.9:g.47353710del , CM000673.1:g.47353710del	GRCh37
NC_000011.8:g.47310286del	NCBI36
NG_007667.1:g.25546del , LRG_386:g.25546del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3729del MANE Select	ENSP00000442795.1:p.Cys1244AlafsTer?
ENST00000256993.8:c.3729del	ENSP00000256993.5:p.Cys1244AlafsTer?
ENST00000399249.6:c.3729del	ENSP00000382193.2:p.Cys1244AlafsTer?
ENST00000545968.5:c.3729del	ENSP00000442795.1:p.Cys1244AlafsTer?
NM_000256.3:c.3729del , LRG_386t1:c.3729del MANE Select	NP_000247.2:p.Cys1244AlafsTer?
XM_011520117.1:c.3711del	XP_011518419.1:p.Cys1238AlafsTer?
XM_011520118.1:c.3648del	XP_011518420.1:p.Cys1217AlafsTer?