Canonical Allele Identifier: CA079005
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1243991
ClinVar RCV Id: RCV001648257 RCV002072992
dbSNP Id: rs781208731
ExAC: 11:47356583 G / A
gnomAD v2: 11-47356583-G-A
gnomAD v3: 11-47335032-G-A
gnomAD v4: 11-47335032-G-A
MyVariant Identifiers: chr11:g.47356583G>A (hg19) chr11:g.47335032G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335032G>A , CM000673.2:g.47335032G>A GRCh38
NC_000011.9:g.47356583G>A , CM000673.1:g.47356583G>A GRCh37
NC_000011.8:g.47313159G>A NCBI36
NG_007667.1:g.22671C>T , LRG_386:g.22671C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2905+10C>T MANE Select ENSP00000442795.1:n.2905+10C>T
ENST00000256993.8:c.2905+10C>T ENSP00000256993.5:n.2905+10C>T
ENST00000399249.6:c.2905+10C>T ENSP00000382193.2:n.2905+10C>T
ENST00000545968.5:c.2905+10C>T ENSP00000442795.1:n.2905+10C>T
NM_000256.3:c.2905+10C>T , LRG_386t1:c.2905+10C>T MANE Select NP_000247.2:n.2905+10C>T
XM_011520117.1:c.2887+10C>T XP_011518419.1:n.2887+10C>T
XM_011520118.1:c.2824+10C>T XP_011518420.1:n.2824+10C>T
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