Canonical Allele Identifier: CA474212195
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2142850946
gnomAD v4: 11-47333272-C-T
MyVariant Identifiers: chr11:g.47354823C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333272C>T , CM000673.2:g.47333272C>T GRCh38
NC_000011.9:g.47354823C>T , CM000673.1:g.47354823C>T GRCh37
NC_000011.8:g.47311399C>T NCBI36
NG_007667.1:g.24431G>A , LRG_386:g.24431G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3252G>A MANE Select ENSP00000442795.1:p.Leu1084=
ENST00000256993.8:c.3252G>A ENSP00000256993.5:p.Leu1084=
ENST00000399249.6:c.3252G>A ENSP00000382193.2:p.Leu1084=
ENST00000545968.5:c.3252G>A ENSP00000442795.1:p.Leu1084=
NM_000256.3:c.3252G>A , LRG_386t1:c.3252G>A MANE Select NP_000247.2:p.Leu1084=
XM_011520117.1:c.3234G>A XP_011518419.1:p.Leu1078=
XM_011520118.1:c.3171G>A XP_011518420.1:p.Leu1057=
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