Canonical Allele Identifier: CA380318960

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47337760-G-C
• MyVariant Identifiers: chr11:g.47359311G>C (hg19) ; chr11:g.47337760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337760G>C , CM000673.2:g.47337760G>C	GRCh38
NC_000011.9:g.47359311G>C , CM000673.1:g.47359311G>C	GRCh37
NC_000011.8:g.47315887G>C	NCBI36
NG_007667.1:g.19943C>G , LRG_386:g.19943C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2343C>G MANE Select	ENSP00000442795.1:p.Ser781Arg
ENST00000256993.8:c.2343C>G	ENSP00000256993.5:p.Ser781Arg
ENST00000399249.6:c.2343C>G	ENSP00000382193.2:p.Ser781Arg
ENST00000544791.1:c.2343C>G	ENSP00000444259.1:p.Ser781Arg
ENST00000545968.5:c.2343C>G	ENSP00000442795.1:p.Ser781Arg
NM_000256.3:c.2343C>G , LRG_386t1:c.2343C>G MANE Select	NP_000247.2:p.Ser781Arg
XM_011520117.1:c.2325C>G	XP_011518419.1:p.Ser775Arg
XM_011520118.1:c.2262C>G	XP_011518420.1:p.Ser754Arg