Canonical Allele Identifier: CA2613405358
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47343219-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343219C>A , CM000673.2:g.47343219C>A GRCh38
NC_000011.9:g.47364770C>A , CM000673.1:g.47364770C>A GRCh37
NC_000011.8:g.47321346C>A NCBI36
NG_007667.1:g.14484G>T , LRG_386:g.14484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1226+41G>T MANE Select ENSP00000442795.1:n.1226+41G>T
ENST00000256993.8:c.1224-71G>T ENSP00000256993.5:n.1224-71G>T
ENST00000399249.6:c.1226+41G>T ENSP00000382193.2:n.1226+41G>T
ENST00000544791.1:c.1226+41G>T ENSP00000444259.1:n.1226+41G>T
ENST00000545968.5:c.1226+41G>T ENSP00000442795.1:n.1226+41G>T
NM_000256.3:c.1226+41G>T , LRG_386t1:c.1226+41G>T MANE Select NP_000247.2:n.1226+41G>T
XM_011520117.1:c.1208+41G>T XP_011518419.1:n.1208+41G>T
XM_011520118.1:c.1226+41G>T XP_011518420.1:n.1226+41G>T
Search 100 bp 5'
Search 100 bp 3'