Canonical Allele Identifier: CA079283
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 431894
ClinVar RCV Id: RCV000497997 RCV001235231
dbSNP Id: rs377106864
ExAC: 11:47354759 C / T
gnomAD v2: 11-47354759-C-T
gnomAD v3: 11-47333208-C-T
gnomAD v4: 11-47333208-C-T
COSMIC: COSM4826038 COSM4826039
MyVariant Identifiers: chr11:g.47354759C>T (hg19) chr11:g.47333208C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333208C>T , CM000673.2:g.47333208C>T GRCh38
NC_000011.9:g.47354759C>T , CM000673.1:g.47354759C>T GRCh37
NC_000011.8:g.47311335C>T NCBI36
NG_007667.1:g.24495G>A , LRG_386:g.24495G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3316G>A MANE Select ENSP00000442795.1:p.Asp1106Asn
ENST00000256993.8:c.3316G>A ENSP00000256993.5:p.Asp1106Asn
ENST00000399249.6:c.3316G>A ENSP00000382193.2:p.Asp1106Asn
ENST00000545968.5:c.3316G>A ENSP00000442795.1:p.Asp1106Asn
NM_000256.3:c.3316G>A , LRG_386t1:c.3316G>A MANE Select NP_000247.2:p.Asp1106Asn
XM_011520117.1:c.3298G>A XP_011518419.1:p.Asp1100Asn
XM_011520118.1:c.3235G>A XP_011518420.1:p.Asp1079Asn
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