Canonical Allele Identifier: CA2613400086
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47337280-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337280G>A , CM000673.2:g.47337280G>A GRCh38
NC_000011.9:g.47358831G>A , CM000673.1:g.47358831G>A GRCh37
NC_000011.8:g.47315407G>A NCBI36
NG_007667.1:g.20423C>T , LRG_386:g.20423C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2602+111C>T MANE Select ENSP00000442795.1:n.2602+111C>T
ENST00000256993.8:c.2602+111C>T ENSP00000256993.5:n.2602+111C>T
ENST00000399249.6:c.2602+111C>T ENSP00000382193.2:n.2602+111C>T
ENST00000544791.1:c.*107+111C>T ENSP00000444259.1:n.*107+111C>T
ENST00000545968.5:c.2602+111C>T ENSP00000442795.1:n.2602+111C>T
NM_000256.3:c.2602+111C>T , LRG_386t1:c.2602+111C>T MANE Select NP_000247.2:n.2602+111C>T
XM_011520117.1:c.2584+111C>T XP_011518419.1:n.2584+111C>T
XM_011520118.1:c.2521+111C>T XP_011518420.1:n.2521+111C>T
Search 100 bp 5'
Search 100 bp 3'