Canonical Allele Identifier: CA474217445
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47361202C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339651C>T , CM000673.2:g.47339651C>T GRCh38
NC_000011.9:g.47361202C>T , CM000673.1:g.47361202C>T GRCh37
NC_000011.8:g.47317778C>T NCBI36
NG_007667.1:g.18052G>A , LRG_386:g.18052G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2067G>A MANE Select ENSP00000442795.1:p.Gln689=
ENST00000256993.8:c.2067G>A ENSP00000256993.5:p.Gln689=
ENST00000399249.6:c.2067G>A ENSP00000382193.2:p.Gln689=
ENST00000544791.1:c.2067G>A ENSP00000444259.1:p.Gln689=
ENST00000545968.5:c.2067G>A ENSP00000442795.1:p.Gln689=
NM_000256.3:c.2067G>A , LRG_386t1:c.2067G>A MANE Select NP_000247.2:p.Gln689=
XM_011520117.1:c.2049G>A XP_011518419.1:p.Gln683=
XM_011520118.1:c.2067G>A XP_011518420.1:p.Gln689=