Canonical Allele Identifier: CA056395

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 372419
• ClinVar RCV Id: RCV000414208 ; RCV001170210 ; RCV000628903
• dbSNP Id: rs779693951
• ExAC: 11:47370088 T / C
• gnomAD v2: 11-47370088-T-C
• gnomAD v3: 11-47348537-T-C
• gnomAD v4: 11-47348537-T-C
• MyVariant Identifiers: chr11:g.47370088T>C (hg19) ; chr11:g.47348537T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47348537T>C , CM000673.2:g.47348537T>C	GRCh38
NC_000011.9:g.47370088T>C , CM000673.1:g.47370088T>C	GRCh37
NC_000011.8:g.47326664T>C	NCBI36
NG_007667.1:g.9166A>G , LRG_386:g.9166A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.659A>G MANE Select	ENSP00000442795.1:p.Tyr220Cys
ENST00000256993.8:c.659A>G	ENSP00000256993.5:p.Tyr220Cys
ENST00000399249.6:c.659A>G	ENSP00000382193.2:p.Tyr220Cys
ENST00000544791.1:c.659A>G	ENSP00000444259.1:p.Tyr220Cys
ENST00000545968.5:c.659A>G	ENSP00000442795.1:p.Tyr220Cys
NM_000256.3:c.659A>G , LRG_386t1:c.659A>G MANE Select	NP_000247.2:p.Tyr220Cys
XM_011520117.1:c.659A>G	XP_011518419.1:p.Tyr220Cys
XM_011520118.1:c.659A>G	XP_011518420.1:p.Tyr220Cys