Canonical Allele Identifier: CA380312207
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47332573-C-T
MyVariant Identifiers: chr11:g.47354124C>T (hg19) chr11:g.47332573C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332573C>T , CM000673.2:g.47332573C>T GRCh38
NC_000011.9:g.47354124C>T , CM000673.1:g.47354124C>T GRCh37
NC_000011.8:g.47310700C>T NCBI36
NG_007667.1:g.25130G>A , LRG_386:g.25130G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3620G>A MANE Select ENSP00000442795.1:p.Ser1207Asn
ENST00000256993.8:c.3620G>A ENSP00000256993.5:p.Ser1207Asn
ENST00000399249.6:c.3620G>A ENSP00000382193.2:p.Ser1207Asn
ENST00000545968.5:c.3620G>A ENSP00000442795.1:p.Ser1207Asn
NM_000256.3:c.3620G>A , LRG_386t1:c.3620G>A MANE Select NP_000247.2:p.Ser1207Asn
XM_011520117.1:c.3602G>A XP_011518419.1:p.Ser1201Asn
XM_011520118.1:c.3539G>A XP_011518420.1:p.Ser1180Asn
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