Canonical Allele Identifier: CA474216547

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1457811272
• gnomAD v2: 11-47359338-T-C
• gnomAD v4: 11-47337787-T-C
• MyVariant Identifiers: chr11:g.47359338T>C (hg19) ; chr11:g.47337787T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337787T>C , CM000673.2:g.47337787T>C	GRCh38
NC_000011.9:g.47359338T>C , CM000673.1:g.47359338T>C	GRCh37
NC_000011.8:g.47315914T>C	NCBI36
NG_007667.1:g.19916A>G , LRG_386:g.19916A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2316A>G MANE Select	ENSP00000442795.1:p.Pro772=
ENST00000256993.8:c.2316A>G	ENSP00000256993.5:p.Pro772=
ENST00000399249.6:c.2316A>G	ENSP00000382193.2:p.Pro772=
ENST00000544791.1:c.2316A>G	ENSP00000444259.1:p.Pro772=
ENST00000545968.5:c.2316A>G	ENSP00000442795.1:p.Pro772=
NM_000256.3:c.2316A>G , LRG_386t1:c.2316A>G MANE Select	NP_000247.2:p.Pro772=
XM_011520117.1:c.2298A>G	XP_011518419.1:p.Pro766=
XM_011520118.1:c.2235A>G	XP_011518420.1:p.Pro745=