Canonical Allele Identifier: CA474216565
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095884046
gnomAD v4: 11-47337790-C-T
MyVariant Identifiers: chr11:g.47359341C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337790C>T , CM000673.2:g.47337790C>T GRCh38
NC_000011.9:g.47359341C>T , CM000673.1:g.47359341C>T GRCh37
NC_000011.8:g.47315917C>T NCBI36
NG_007667.1:g.19913G>A , LRG_386:g.19913G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.2313G>A MANE Select ENSP00000442795.1:p.Val771=
ENST00000256993.8:c.2313G>A ENSP00000256993.5:p.Val771=
ENST00000399249.6:c.2313G>A ENSP00000382193.2:p.Val771=
ENST00000544791.1:c.2313G>A ENSP00000444259.1:p.Val771=
ENST00000545968.5:c.2313G>A ENSP00000442795.1:p.Val771=
NM_000256.3:c.2313G>A , LRG_386t1:c.2313G>A MANE Select NP_000247.2:p.Val771=
XM_011520117.1:c.2295G>A XP_011518419.1:p.Val765=
XM_011520118.1:c.2232G>A XP_011518420.1:p.Val744=
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