Canonical Allele Identifier: CA380334016
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 667410
ClinVar RCV Id: RCV000826179
dbSNP Id: rs1595848628
MyVariant Identifiers: chr11:g.47369458T>A (hg19) chr11:g.47347907T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47347907T>A , CM000673.2:g.47347907T>A GRCh38
NC_000011.9:g.47369458T>A , CM000673.1:g.47369458T>A GRCh37
NC_000011.8:g.47326034T>A NCBI36
NG_007667.1:g.9796A>T , LRG_386:g.9796A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.773-2A>T MANE Select ENSP00000442795.1:n.773-2A>T
ENST00000256993.8:c.773-2A>T ENSP00000256993.5:n.773-2A>T
ENST00000399249.6:c.773-2A>T ENSP00000382193.2:n.773-2A>T
ENST00000544791.1:c.773-2A>T ENSP00000444259.1:n.773-2A>T
ENST00000545968.5:c.773-2A>T ENSP00000442795.1:n.773-2A>T
NM_000256.3:c.773-2A>T , LRG_386t1:c.773-2A>T MANE Select NP_000247.2:n.773-2A>T
XM_011520117.1:c.773-2A>T XP_011518419.1:n.773-2A>T
XM_011520118.1:c.773-2A>T XP_011518420.1:n.773-2A>T
Search 100 bp 5'
Search 100 bp 3'