Canonical Allele Identifier: CA042179
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 304959
ClinVar RCV Id: RCV000263851 RCV000318985 RCV000373599 RCV001525475 RCV003298366 RCV003993925
dbSNP Id: rs375007425
ExAC: 11:47367792 G / C
gnomAD v2: 11-47367792-G-C
gnomAD v3: 11-47346241-G-C
gnomAD v4: 11-47346241-G-C
MyVariant Identifiers: chr11:g.47367792G>C (hg19) chr11:g.47346241G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47346241G>C , CM000673.2:g.47346241G>C GRCh38
NC_000011.9:g.47367792G>C , CM000673.1:g.47367792G>C GRCh37
NC_000011.8:g.47324368G>C NCBI36
NG_007667.1:g.11462C>G , LRG_386:g.11462C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1056C>G MANE Select ENSP00000442795.1:p.Leu352=
ENST00000256993.8:c.1056C>G ENSP00000256993.5:p.Leu352=
ENST00000399249.6:c.1056C>G ENSP00000382193.2:p.Leu352=
ENST00000544791.1:c.1056C>G ENSP00000444259.1:p.Leu352=
ENST00000545968.5:c.1056C>G ENSP00000442795.1:p.Leu352=
NM_000256.3:c.1056C>G , LRG_386t1:c.1056C>G MANE Select NP_000247.2:p.Leu352=
XM_011520117.1:c.1038C>G XP_011518419.1:p.Leu346=
XM_011520118.1:c.1056C>G XP_011518420.1:p.Leu352=
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