Canonical Allele Identifier: CA937671648
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs754641725

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342813G>C , CM000673.2:g.47342813G>C GRCh38
NC_000011.9:g.47364364G>C , CM000673.1:g.47364364G>C GRCh37
NC_000011.8:g.47320940G>C NCBI36
NG_007667.1:g.14890C>G , LRG_386:g.14890C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1457+17C>G MANE Select ENSP00000442795.1:n.1457+17C>G
ENST00000256993.8:c.1457+17C>G ENSP00000256993.5:n.1457+17C>G
ENST00000399249.6:c.1457+17C>G ENSP00000382193.2:n.1457+17C>G
ENST00000544791.1:c.1457+17C>G ENSP00000444259.1:n.1457+17C>G
ENST00000545968.5:c.1457+17C>G ENSP00000442795.1:n.1457+17C>G
NM_000256.3:c.1457+17C>G , LRG_386t1:c.1457+17C>G MANE Select NP_000247.2:n.1457+17C>G
XM_011520117.1:c.1439+17C>G XP_011518419.1:n.1439+17C>G
XM_011520118.1:c.1457+17C>G XP_011518420.1:n.1457+17C>G