Canonical Allele Identifier: CA2613356010
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47332416-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332416C>T , CM000673.2:g.47332416C>T GRCh38
NC_000011.9:g.47353967C>T , CM000673.1:g.47353967C>T GRCh37
NC_000011.8:g.47310543C>T NCBI36
NG_007667.1:g.25287G>A , LRG_386:g.25287G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3627+150G>A MANE Select ENSP00000442795.1:n.3627+150G>A
ENST00000256993.8:c.3627+150G>A ENSP00000256993.5:n.3627+150G>A
ENST00000399249.6:c.3627+150G>A ENSP00000382193.2:n.3627+150G>A
ENST00000545968.5:c.3627+150G>A ENSP00000442795.1:n.3627+150G>A
NM_000256.3:c.3627+150G>A , LRG_386t1:c.3627+150G>A MANE Select NP_000247.2:n.3627+150G>A
XM_011520117.1:c.3609+150G>A XP_011518419.1:n.3609+150G>A
XM_011520118.1:c.3546+150G>A XP_011518420.1:n.3546+150G>A
Search 100 bp 5'
Search 100 bp 3'