Canonical Allele Identifier: CA053677

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 454326
• ClinVar RCV Id: RCV000547056 ; RCV000601241 ; RCV001564894 ; RCV002323907 ; RCV001188388 ; RCV002490930
• dbSNP Id: rs368721523
• ExAC: 11:47354497 G / A
• gnomAD v2: 11-47354497-G-A
• gnomAD v3: 11-47332946-G-A
• gnomAD v4: 11-47332946-G-A
• MyVariant Identifiers: chr11:g.47354497G>A (hg19) ; chr11:g.47332946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332946G>A , CM000673.2:g.47332946G>A	GRCh38
NC_000011.9:g.47354497G>A , CM000673.1:g.47354497G>A	GRCh37
NC_000011.8:g.47311073G>A	NCBI36
NG_007667.1:g.24757C>T , LRG_386:g.24757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3358C>T MANE Select	ENSP00000442795.1:p.Arg1120Cys
ENST00000256993.8:c.3358C>T	ENSP00000256993.5:p.Arg1120Cys
ENST00000399249.6:c.3358C>T	ENSP00000382193.2:p.Arg1120Cys
ENST00000545968.5:c.3358C>T	ENSP00000442795.1:p.Arg1120Cys
NM_000256.3:c.3358C>T , LRG_386t1:c.3358C>T MANE Select	NP_000247.2:p.Arg1120Cys
XM_011520117.1:c.3340C>T	XP_011518419.1:p.Arg1114Cys
XM_011520118.1:c.3277C>T	XP_011518420.1:p.Arg1093Cys