Canonical Allele Identifier: CA380310981
Gene: MYBPC3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47332146T>C
GRCh37 chr11:g.47353697T>C
Revel Score:
ENST00000545968 (MANE Select) 0.812
ENST00000399249 0.812
ENST00000256993 0.812
ClinVar RCV:
RCV000489197
ClinVar Variation:
427135
dbSNP:
1085307978
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332146T>C , CM000673.2:g.47332146T>C GRCh38
NC_000011.9:g.47353697T>C , CM000673.1:g.47353697T>C GRCh37
NC_000011.8:g.47310273T>C NCBI36
NG_007667.1:g.25557A>G , LRG_386:g.25557A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3740A>G MANE Select ENSP00000442795.1:p.Asp1247Gly
ENST00000256993.8:c.3740A>G ENSP00000256993.5:p.Asp1247Gly
ENST00000399249.6:c.3740A>G ENSP00000382193.2:p.Asp1247Gly
ENST00000545968.5:c.3740A>G ENSP00000442795.1:p.Asp1247Gly
NM_000256.3:c.3740A>G , LRG_386t1:c.3740A>G MANE Select NP_000247.2:p.Asp1247Gly
XM_011520117.1:c.3722A>G XP_011518419.1:p.Asp1241Gly
XM_011520118.1:c.3659A>G XP_011518420.1:p.Asp1220Gly
Search 100 bp 5'
Search 100 bp 3'