Canonical Allele Identifier: CA599374331
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs1405347655
gnomAD v2: 11-47354714-T-G
gnomAD v3: 11-47333163-T-G
gnomAD v4: 11-47333163-T-G
MyVariant Identifiers: chr11:g.47354714T>G (hg19) chr11:g.47333163T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333163T>G , CM000673.2:g.47333163T>G GRCh38
NC_000011.9:g.47354714T>G , CM000673.1:g.47354714T>G GRCh37
NC_000011.8:g.47311290T>G NCBI36
NG_007667.1:g.24540A>C , LRG_386:g.24540A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3330+31A>C MANE Select ENSP00000442795.1:n.3330+31A>C
ENST00000256993.8:c.3330+31A>C ENSP00000256993.5:n.3330+31A>C
ENST00000399249.6:c.3330+31A>C ENSP00000382193.2:n.3330+31A>C
ENST00000545968.5:c.3330+31A>C ENSP00000442795.1:n.3330+31A>C
NM_000256.3:c.3330+31A>C , LRG_386t1:c.3330+31A>C MANE Select NP_000247.2:n.3330+31A>C
XM_011520117.1:c.3312+31A>C XP_011518419.1:n.3312+31A>C
XM_011520118.1:c.3249+31A>C XP_011518420.1:n.3249+31A>C
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