Canonical Allele Identifier: CA676995096
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1257659531
MyVariant Identifiers: chr11:g.47359142G>T (hg19) chr11:g.47337591G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337591G>T , CM000673.2:g.47337591G>T GRCh38
NC_000011.9:g.47359142G>T , CM000673.1:g.47359142G>T GRCh37
NC_000011.8:g.47315718G>T NCBI36
NG_007667.1:g.20112C>A , LRG_386:g.20112C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2414-12C>A MANE Select ENSP00000442795.1:n.2414-12C>A
ENST00000256993.8:c.2414-12C>A ENSP00000256993.5:n.2414-12C>A
ENST00000399249.6:c.2414-12C>A ENSP00000382193.2:n.2414-12C>A
ENST00000544791.1:c.2414-80C>A ENSP00000444259.1:n.2414-80C>A
ENST00000545968.5:c.2414-12C>A ENSP00000442795.1:n.2414-12C>A
NM_000256.3:c.2414-12C>A , LRG_386t1:c.2414-12C>A MANE Select NP_000247.2:n.2414-12C>A
XM_011520117.1:c.2396-12C>A XP_011518419.1:n.2396-12C>A
XM_011520118.1:c.2333-12C>A XP_011518420.1:n.2333-12C>A
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