Canonical Allele Identifier: CA1969336108

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1545846
• ClinVar RCV Id: RCV002168223
• dbSNP Id: rs2095890140

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342762T>C , CM000673.2:g.47342762T>C	GRCh38
NC_000011.9:g.47364313T>C , CM000673.1:g.47364313T>C	GRCh37
NC_000011.8:g.47320889T>C	NCBI36
NG_007667.1:g.14941A>G , LRG_386:g.14941A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.1458-18A>G MANE Select	ENSP00000442795.1:n.1458-18A>G
ENST00000256993.8:c.1458-18A>G	ENSP00000256993.5:n.1458-18A>G
ENST00000399249.6:c.1458-18A>G	ENSP00000382193.2:n.1458-18A>G
ENST00000544791.1:c.1458-18A>G	ENSP00000444259.1:n.1458-18A>G
ENST00000545968.5:c.1458-18A>G	ENSP00000442795.1:n.1458-18A>G
NM_000256.3:c.1458-18A>G , LRG_386t1:c.1458-18A>G MANE Select	NP_000247.2:n.1458-18A>G
XM_011520117.1:c.1440-18A>G	XP_011518419.1:n.1440-18A>G
XM_011520118.1:c.1458-18A>G	XP_011518420.1:n.1458-18A>G