Canonical Allele Identifier: CA079242
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 636530
ClinVar RCV Id: RCV000788384
dbSNP Id: rs773543130
ExAC: 11:47354843 A / G
gnomAD v2: 11-47354843-A-G
gnomAD v3: 11-47333292-A-G
gnomAD v4: 11-47333292-A-G
MyVariant Identifiers: chr11:g.47354843A>G (hg19) chr11:g.47333292A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333292A>G , CM000673.2:g.47333292A>G GRCh38
NC_000011.9:g.47354843A>G , CM000673.1:g.47354843A>G GRCh37
NC_000011.8:g.47311419A>G NCBI36
NG_007667.1:g.24411T>C , LRG_386:g.24411T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3232T>C MANE Select ENSP00000442795.1:p.Trp1078Arg
ENST00000256993.8:c.3232T>C ENSP00000256993.5:p.Trp1078Arg
ENST00000399249.6:c.3232T>C ENSP00000382193.2:p.Trp1078Arg
ENST00000545968.5:c.3232T>C ENSP00000442795.1:p.Trp1078Arg
NM_000256.3:c.3232T>C , LRG_386t1:c.3232T>C MANE Select NP_000247.2:p.Trp1078Arg
XM_011520117.1:c.3214T>C XP_011518419.1:p.Trp1072Arg
XM_011520118.1:c.3151T>C XP_011518420.1:p.Trp1051Arg
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