Canonical Allele Identifier: CA474213055
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47356666C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335115C>T , CM000673.2:g.47335115C>T GRCh38
NC_000011.9:g.47356666C>T , CM000673.1:g.47356666C>T GRCh37
NC_000011.8:g.47313242C>T NCBI36
NG_007667.1:g.22588G>A , LRG_386:g.22588G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2832G>A MANE Select ENSP00000442795.1:p.Val944=
ENST00000256993.8:c.2832G>A ENSP00000256993.5:p.Val944=
ENST00000399249.6:c.2832G>A ENSP00000382193.2:p.Val944=
ENST00000545968.5:c.2832G>A ENSP00000442795.1:p.Val944=
NM_000256.3:c.2832G>A , LRG_386t1:c.2832G>A MANE Select NP_000247.2:p.Val944=
XM_011520117.1:c.2814G>A XP_011518419.1:p.Val938=
XM_011520118.1:c.2751G>A XP_011518420.1:p.Val917=