Canonical Allele Identifier: CA474429559
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47358997G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337446G>C , CM000673.2:g.47337446G>C GRCh38
NC_000011.9:g.47358997G>C , CM000673.1:g.47358997G>C GRCh37
NC_000011.8:g.47315573G>C NCBI36
NG_007667.1:g.20257C>G , LRG_386:g.20257C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2547C>G MANE Select ENSP00000442795.1:p.Val849=
ENST00000256993.8:c.2547C>G ENSP00000256993.5:p.Val849=
ENST00000399249.6:c.2547C>G ENSP00000382193.2:p.Val849=
ENST00000544791.1:c.*52C>G ENSP00000444259.1:n.*52C>G
ENST00000545968.5:c.2547C>G ENSP00000442795.1:p.Val849=
NM_000256.3:c.2547C>G , LRG_386t1:c.2547C>G MANE Select NP_000247.2:p.Val849=
XM_011520117.1:c.2529C>G XP_011518419.1:p.Val843=
XM_011520118.1:c.2466C>G XP_011518420.1:p.Val822=
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