Canonical Allele Identifier: CA599374140
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1158422189
gnomAD v2: 11-47358900-T-G
gnomAD v3: 11-47337349-T-G
gnomAD v4: 11-47337349-T-G
MyVariant Identifiers: chr11:g.47358900T>G (hg19) chr11:g.47337349T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337349T>G , CM000673.2:g.47337349T>G GRCh38
NC_000011.9:g.47358900T>G , CM000673.1:g.47358900T>G GRCh37
NC_000011.8:g.47315476T>G NCBI36
NG_007667.1:g.20354A>C , LRG_386:g.20354A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2602+42A>C MANE Select ENSP00000442795.1:n.2602+42A>C
ENST00000256993.8:c.2602+42A>C ENSP00000256993.5:n.2602+42A>C
ENST00000399249.6:c.2602+42A>C ENSP00000382193.2:n.2602+42A>C
ENST00000544791.1:c.*107+42A>C ENSP00000444259.1:n.*107+42A>C
ENST00000545968.5:c.2602+42A>C ENSP00000442795.1:n.2602+42A>C
NM_000256.3:c.2602+42A>C , LRG_386t1:c.2602+42A>C MANE Select NP_000247.2:n.2602+42A>C
XM_011520117.1:c.2584+42A>C XP_011518419.1:n.2584+42A>C
XM_011520118.1:c.2521+42A>C XP_011518420.1:n.2521+42A>C
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