Canonical Allele Identifier: CA913187695
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 927469
ClinVar RCV Id: RCV001190777
dbSNP Id: rs2095881137
gnomAD v4: 11-47335223-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335223G>A , CM000673.2:g.47335223G>A GRCh38
NC_000011.9:g.47356774G>A , CM000673.1:g.47356774G>A GRCh37
NC_000011.8:g.47313350G>A NCBI36
NG_007667.1:g.22480C>T , LRG_386:g.22480C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2738-14C>T MANE Select ENSP00000442795.1:n.2738-14C>T
ENST00000256993.8:c.2738-14C>T ENSP00000256993.5:n.2738-14C>T
ENST00000399249.6:c.2738-14C>T ENSP00000382193.2:n.2738-14C>T
ENST00000545968.5:c.2738-14C>T ENSP00000442795.1:n.2738-14C>T
NM_000256.3:c.2738-14C>T , LRG_386t1:c.2738-14C>T MANE Select NP_000247.2:n.2738-14C>T
XM_011520117.1:c.2720-14C>T XP_011518419.1:n.2720-14C>T
XM_011520118.1:c.2657-14C>T XP_011518420.1:n.2657-14C>T
Search 100 bp 5'
Search 100 bp 3'