Canonical Allele Identifier: CA221697603
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2153620
ClinVar RCV Id: RCV003085757
dbSNP Id: rs892610465
gnomAD v2: 11-47365069-A-G
gnomAD v3: 11-47343518-A-G
gnomAD v4: 11-47343518-A-G
MyVariant Identifiers: chr11:g.47365069A>G (hg19) chr11:g.47343518A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343518A>G , CM000673.2:g.47343518A>G GRCh38
NC_000011.9:g.47365069A>G , CM000673.1:g.47365069A>G GRCh37
NC_000011.8:g.47321645A>G NCBI36
NG_007667.1:g.14185T>C , LRG_386:g.14185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1197T>C MANE Select ENSP00000442795.1:p.Asn399=
ENST00000256993.8:c.1197T>C ENSP00000256993.5:p.Asn399=
ENST00000399249.6:c.1197T>C ENSP00000382193.2:p.Asn399=
ENST00000544791.1:c.1197T>C ENSP00000444259.1:p.Asn399=
ENST00000545968.5:c.1197T>C ENSP00000442795.1:p.Asn399=
NM_000256.3:c.1197T>C , LRG_386t1:c.1197T>C MANE Select NP_000247.2:p.Asn399=
XM_011520117.1:c.1179T>C XP_011518419.1:p.Asn393=
XM_011520118.1:c.1197T>C XP_011518420.1:p.Asn399=
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