Canonical Allele Identifier: CA079231
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 429967
ClinVar RCV Id: RCV000493715 RCV001188960 RCV002527095 RCV003302729
dbSNP Id: rs767927162
ExAC: 11:47354852 T / C
gnomAD v2: 11-47354852-T-C
gnomAD v3: 11-47333301-T-C
gnomAD v4: 11-47333301-T-C
MyVariant Identifiers: chr11:g.47354852T>C (hg19) chr11:g.47333301T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333301T>C , CM000673.2:g.47333301T>C GRCh38
NC_000011.9:g.47354852T>C , CM000673.1:g.47354852T>C GRCh37
NC_000011.8:g.47311428T>C NCBI36
NG_007667.1:g.24402A>G , LRG_386:g.24402A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3223A>G MANE Select ENSP00000442795.1:p.Thr1075Ala
ENST00000256993.8:c.3223A>G ENSP00000256993.5:p.Thr1075Ala
ENST00000399249.6:c.3223A>G ENSP00000382193.2:p.Thr1075Ala
ENST00000545968.5:c.3223A>G ENSP00000442795.1:p.Thr1075Ala
NM_000256.3:c.3223A>G , LRG_386t1:c.3223A>G MANE Select NP_000247.2:p.Thr1075Ala
XM_011520117.1:c.3205A>G XP_011518419.1:p.Thr1069Ala
XM_011520118.1:c.3142A>G XP_011518420.1:p.Thr1048Ala
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