Canonical Allele Identifier: CA079221
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1099660
ClinVar RCV Id: RCV001422025
dbSNP Id: rs756786807
ExAC: 11:47354877 T / C
gnomAD v2: 11-47354877-T-C
gnomAD v4: 11-47333326-T-C
MyVariant Identifiers: chr11:g.47354877T>C (hg19) chr11:g.47333326T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333326T>C , CM000673.2:g.47333326T>C GRCh38
NC_000011.9:g.47354877T>C , CM000673.1:g.47354877T>C GRCh37
NC_000011.8:g.47311453T>C NCBI36
NG_007667.1:g.24377A>G , LRG_386:g.24377A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3198A>G MANE Select ENSP00000442795.1:p.Pro1066=
ENST00000256993.8:c.3198A>G ENSP00000256993.5:p.Pro1066=
ENST00000399249.6:c.3198A>G ENSP00000382193.2:p.Pro1066=
ENST00000545968.5:c.3198A>G ENSP00000442795.1:p.Pro1066=
NM_000256.3:c.3198A>G , LRG_386t1:c.3198A>G MANE Select NP_000247.2:p.Pro1066=
XM_011520117.1:c.3180A>G XP_011518419.1:p.Pro1060=
XM_011520118.1:c.3117A>G XP_011518420.1:p.Pro1039=
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