Canonical Allele Identifier: CA1969333178
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095877585
gnomAD v4: 11-47332063-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332063G>T , CM000673.2:g.47332063G>T GRCh38
NC_000011.9:g.47353614G>T , CM000673.1:g.47353614G>T GRCh37
NC_000011.8:g.47310190G>T NCBI36
NG_007667.1:g.25640C>A , LRG_386:g.25640C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3814+9C>A MANE Select ENSP00000442795.1:n.3814+9C>A
ENST00000256993.8:c.3814+9C>A ENSP00000256993.5:n.3814+9C>A
ENST00000399249.6:c.3814+9C>A ENSP00000382193.2:n.3814+9C>A
ENST00000545968.5:c.3814+9C>A ENSP00000442795.1:n.3814+9C>A
NM_000256.3:c.3814+9C>A , LRG_386t1:c.3814+9C>A MANE Select NP_000247.2:n.3814+9C>A
XM_011520117.1:c.3796+9C>A XP_011518419.1:n.3796+9C>A
XM_011520118.1:c.3733+9C>A XP_011518420.1:n.3733+9C>A
Search 100 bp 5'
Search 100 bp 3'