Canonical Allele Identifier: CA013630
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181003
dbSNP Id: rs571457875

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333553G>A , CM000673.2:g.47333553G>A GRCh38
NC_000011.9:g.47355104G>A , CM000673.1:g.47355104G>A GRCh37
NC_000011.8:g.47311680G>A NCBI36
NG_007667.1:g.24150C>T , LRG_386:g.24150C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3190+4C>T MANE Select ENSP00000442795.1:p.=
ENST00000256993.8:c.3190+4C>T ENSP00000256993.5:p.=
ENST00000399249.6:c.3190+4C>T ENSP00000382193.2:p.=
ENST00000545968.5:c.3190+4C>T ENSP00000442795.1:p.=
NM_000256.3:c.3190+4C>T , LRG_386t1:c.3190+4C>T MANE Select NP_000247.2:p.=
XM_011520117.1:c.3172+4C>T XP_011518419.1:p.=
XM_011520118.1:c.3109+4C>T XP_011518420.1:p.=