Canonical Allele Identifier: CA010476

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 42538
• ClinVar RCV Id: RCV000035404 ; RCV001057933 ; RCV000770384 ; RCV001701644 ; RCV003318337 ; RCV004018742
• dbSNP Id: rs373164247
• ExAC: 11:47372934 T / C
• gnomAD v2: 11-47372934-T-C
• gnomAD v3: 11-47351383-T-C
• gnomAD v4: 11-47351383-T-C
• MyVariant Identifiers: chr11:g.47372934T>C (hg19) ; chr11:g.47351383T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47351383T>C , CM000673.2:g.47351383T>C	GRCh38
NC_000011.9:g.47372934T>C , CM000673.1:g.47372934T>C	GRCh37
NC_000011.8:g.47329510T>C	NCBI36
NG_007667.1:g.6320A>G , LRG_386:g.6320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.148A>G MANE Select	ENSP00000442795.1:p.Ser50Gly
ENST00000256993.8:c.148A>G	ENSP00000256993.5:p.Ser50Gly
ENST00000399249.6:c.148A>G	ENSP00000382193.2:p.Ser50Gly
ENST00000544791.1:c.148A>G	ENSP00000444259.1:p.Ser50Gly
ENST00000545968.5:c.148A>G	ENSP00000442795.1:p.Ser50Gly
NM_000256.3:c.148A>G , LRG_386t1:c.148A>G MANE Select	NP_000247.2:p.Ser50Gly
XM_011520117.1:c.148A>G	XP_011518419.1:p.Ser50Gly
XM_011520118.1:c.148A>G	XP_011518420.1:p.Ser50Gly