Canonical Allele Identifier: CA380314921
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 524981
ClinVar RCV Id: RCV000628922
dbSNP Id: rs371061770
MyVariant Identifiers: chr11:g.47355161G>C (hg19) chr11:g.47333610G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333610G>C , CM000673.2:g.47333610G>C GRCh38
NC_000011.9:g.47355161G>C , CM000673.1:g.47355161G>C GRCh37
NC_000011.8:g.47311737G>C NCBI36
NG_007667.1:g.24093C>G , LRG_386:g.24093C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3137C>G MANE Select ENSP00000442795.1:p.Thr1046Arg
ENST00000256993.8:c.3137C>G ENSP00000256993.5:p.Thr1046Arg
ENST00000399249.6:c.3137C>G ENSP00000382193.2:p.Thr1046Arg
ENST00000545968.5:c.3137C>G ENSP00000442795.1:p.Thr1046Arg
NM_000256.3:c.3137C>G , LRG_386t1:c.3137C>G MANE Select NP_000247.2:p.Thr1046Arg
XM_011520117.1:c.3119C>G XP_011518419.1:p.Thr1040Arg
XM_011520118.1:c.3056C>G XP_011518420.1:p.Thr1019Arg
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