Canonical Allele Identifier: CA380314015
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 518977
ClinVar RCV Id: RCV000622187 RCV001868105
dbSNP Id: rs1321563978
gnomAD v2: 11-47354746-A-G
gnomAD v4: 11-47333195-A-G
MyVariant Identifiers: chr11:g.47354746A>G (hg19) chr11:g.47333195A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333195A>G , CM000673.2:g.47333195A>G GRCh38
NC_000011.9:g.47354746A>G , CM000673.1:g.47354746A>G GRCh37
NC_000011.8:g.47311322A>G NCBI36
NG_007667.1:g.24508T>C , LRG_386:g.24508T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3329T>C MANE Select ENSP00000442795.1:p.Met1110Thr
ENST00000256993.8:c.3329T>C ENSP00000256993.5:p.Met1110Thr
ENST00000399249.6:c.3329T>C ENSP00000382193.2:p.Met1110Thr
ENST00000545968.5:c.3329T>C ENSP00000442795.1:p.Met1110Thr
NM_000256.3:c.3329T>C , LRG_386t1:c.3329T>C MANE Select NP_000247.2:p.Met1110Thr
XM_011520117.1:c.3311T>C XP_011518419.1:p.Met1104Thr
XM_011520118.1:c.3248T>C XP_011518420.1:p.Met1083Thr
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