Canonical Allele Identifier: CA380318619

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1452171248
• gnomAD v2: 11-47359252-T-C
• MyVariant Identifiers: chr11:g.47359252T>C (hg19) ; chr11:g.47337701T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337701T>C , CM000673.2:g.47337701T>C	GRCh38
NC_000011.9:g.47359252T>C , CM000673.1:g.47359252T>C	GRCh37
NC_000011.8:g.47315828T>C	NCBI36
NG_007667.1:g.20002A>G , LRG_386:g.20002A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2402A>G MANE Select	ENSP00000442795.1:p.Gln801Arg
ENST00000256993.8:c.2402A>G	ENSP00000256993.5:p.Gln801Arg
ENST00000399249.6:c.2402A>G	ENSP00000382193.2:p.Gln801Arg
ENST00000544791.1:c.2402A>G	ENSP00000444259.1:p.Gln801Arg
ENST00000545968.5:c.2402A>G	ENSP00000442795.1:p.Gln801Arg
NM_000256.3:c.2402A>G , LRG_386t1:c.2402A>G MANE Select	NP_000247.2:p.Gln801Arg
XM_011520117.1:c.2384A>G	XP_011518419.1:p.Gln795Arg
XM_011520118.1:c.2321A>G	XP_011518420.1:p.Gln774Arg