Canonical Allele Identifier: CA014038
Gene: MYBPC3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47332931C>T
GRCh37 chr11:g.47354482C>T
Revel Score:
ENST00000545968 (MANE Select) 0.282
ENST00000399249 0.282
ENST00000256993 0.282
gnomAD v2:
11:47354482 C / T
gnomAD v3:
11:47332931 C / T
gnomAD v4:
chr11-47332931-C-T
Joint Max Group AF 0.00001222 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001094 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332931C>T , CM000673.2:g.47332931C>T GRCh38
NC_000011.9:g.47354482C>T , CM000673.1:g.47354482C>T GRCh37
NC_000011.8:g.47311058C>T NCBI36
NG_007667.1:g.24772G>A , LRG_386:g.24772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3373G>A MANE Select ENSP00000442795.1:p.Val1125Met
ENST00000256993.8:c.3373G>A ENSP00000256993.5:p.Val1125Met
ENST00000399249.6:c.3373G>A ENSP00000382193.2:p.Val1125Met
ENST00000545968.5:c.3373G>A ENSP00000442795.1:p.Val1125Met
NM_000256.3:c.3373G>A , LRG_386t1:c.3373G>A MANE Select NP_000247.2:p.Val1125Met
XM_011520117.1:c.3355G>A XP_011518419.1:p.Val1119Met
XM_011520118.1:c.3292G>A XP_011518420.1:p.Val1098Met
Search 100 bp 5'
Search 100 bp 3'