Canonical Allele Identifier: CA474213003
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47356657G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335106G>A , CM000673.2:g.47335106G>A GRCh38
NC_000011.9:g.47356657G>A , CM000673.1:g.47356657G>A GRCh37
NC_000011.8:g.47313233G>A NCBI36
NG_007667.1:g.22597C>T , LRG_386:g.22597C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2841C>T MANE Select ENSP00000442795.1:p.His947=
ENST00000256993.8:c.2841C>T ENSP00000256993.5:p.His947=
ENST00000399249.6:c.2841C>T ENSP00000382193.2:p.His947=
ENST00000545968.5:c.2841C>T ENSP00000442795.1:p.His947=
NM_000256.3:c.2841C>T , LRG_386t1:c.2841C>T MANE Select NP_000247.2:p.His947=
XM_011520117.1:c.2823C>T XP_011518419.1:p.His941=
XM_011520118.1:c.2760C>T XP_011518420.1:p.His920=