Canonical Allele Identifier: CA079552
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 512834
ClinVar RCV Id: RCV000611710 RCV001189432 RCV002064122
dbSNP Id: rs541377415
ExAC: 11:47353636 G / A
gnomAD v2: 11-47353636-G-A
gnomAD v3: 11-47332085-G-A
gnomAD v4: 11-47332085-G-A
MyVariant Identifiers: chr11:g.47353636G>A (hg19) chr11:g.47332085G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332085G>A , CM000673.2:g.47332085G>A GRCh38
NC_000011.9:g.47353636G>A , CM000673.1:g.47353636G>A GRCh37
NC_000011.8:g.47310212G>A NCBI36
NG_007667.1:g.25618C>T , LRG_386:g.25618C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3801C>T MANE Select ENSP00000442795.1:p.Arg1267=
ENST00000256993.8:c.3801C>T ENSP00000256993.5:p.Arg1267=
ENST00000399249.6:c.3801C>T ENSP00000382193.2:p.Arg1267=
ENST00000545968.5:c.3801C>T ENSP00000442795.1:p.Arg1267=
NM_000256.3:c.3801C>T , LRG_386t1:c.3801C>T MANE Select NP_000247.2:p.Arg1267=
XM_011520117.1:c.3783C>T XP_011518419.1:p.Arg1261=
XM_011520118.1:c.3720C>T XP_011518420.1:p.Arg1240=
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