Canonical Allele Identifier: CA079254
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 922832
ClinVar RCV Id: RCV001183129 RCV001504163
dbSNP Id: rs745761062
ExAC: 11:47354808 G / T
gnomAD v2: 11-47354808-G-T
gnomAD v3: 11-47333257-G-T
gnomAD v4: 11-47333257-G-T
MyVariant Identifiers: chr11:g.47354808G>T (hg19) chr11:g.47333257G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333257G>T , CM000673.2:g.47333257G>T GRCh38
NC_000011.9:g.47354808G>T , CM000673.1:g.47354808G>T GRCh37
NC_000011.8:g.47311384G>T NCBI36
NG_007667.1:g.24446C>A , LRG_386:g.24446C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3267C>A MANE Select ENSP00000442795.1:p.Pro1089=
ENST00000256993.8:c.3267C>A ENSP00000256993.5:p.Pro1089=
ENST00000399249.6:c.3267C>A ENSP00000382193.2:p.Pro1089=
ENST00000545968.5:c.3267C>A ENSP00000442795.1:p.Pro1089=
NM_000256.3:c.3267C>A , LRG_386t1:c.3267C>A MANE Select NP_000247.2:p.Pro1089=
XM_011520117.1:c.3249C>A XP_011518419.1:p.Pro1083=
XM_011520118.1:c.3186C>A XP_011518420.1:p.Pro1062=
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