Canonical Allele Identifier: CA474428880
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 444251
ClinVar RCV Id: RCV000513132 RCV000549237
dbSNP Id: rs1555120261
MyVariant Identifiers: chr11:g.47354117C>T (hg19) chr11:g.47332566C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332566C>T , CM000673.2:g.47332566C>T GRCh38
NC_000011.9:g.47354117C>T , CM000673.1:g.47354117C>T GRCh37
NC_000011.8:g.47310693C>T NCBI36
NG_007667.1:g.25137G>A , LRG_386:g.25137G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3627G>A MANE Select ENSP00000442795.1:p.Lys1209=
ENST00000256993.8:c.3627G>A ENSP00000256993.5:p.Lys1209=
ENST00000399249.6:c.3627G>A ENSP00000382193.2:p.Lys1209=
ENST00000545968.5:c.3627G>A ENSP00000442795.1:p.Lys1209=
NM_000256.3:c.3627G>A , LRG_386t1:c.3627G>A MANE Select NP_000247.2:p.Lys1209=
XM_011520117.1:c.3609G>A XP_011518419.1:p.Lys1203=
XM_011520118.1:c.3546G>A XP_011518420.1:p.Lys1182=
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