Canonical Allele Identifier: CA380331260
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 568477
ClinVar RCV Id: RCV000688847 RCV001171150 RCV003489809 RCV002388216
dbSNP Id: rs1236178301
gnomAD v4: 11-47346261-G-A
COSMIC: COSM4033169 COSM4033170
MyVariant Identifiers: chr11:g.47367812G>A (hg19) chr11:g.47346261G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346261G>A , CM000673.2:g.47346261G>A GRCh38
NC_000011.9:g.47367812G>A , CM000673.1:g.47367812G>A GRCh37
NC_000011.8:g.47324388G>A NCBI36
NG_007667.1:g.11442C>T , LRG_386:g.11442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1036C>T MANE Select ENSP00000442795.1:p.Arg346Cys
ENST00000256993.8:c.1036C>T ENSP00000256993.5:p.Arg346Cys
ENST00000399249.6:c.1036C>T ENSP00000382193.2:p.Arg346Cys
ENST00000544791.1:c.1036C>T ENSP00000444259.1:p.Arg346Cys
ENST00000545968.5:c.1036C>T ENSP00000442795.1:p.Arg346Cys
NM_000256.3:c.1036C>T , LRG_386t1:c.1036C>T MANE Select NP_000247.2:p.Arg346Cys
XM_011520117.1:c.1018C>T XP_011518419.1:p.Arg340Cys
XM_011520118.1:c.1036C>T XP_011518420.1:p.Arg346Cys
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