Canonical Allele Identifier: CA013559
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181002
ClinVar RCV Id: RCV000158218 RCV001171136 RCV001209565 RCV002321661
dbSNP Id: rs730880589
ExAC: 11:47355144 T / C
gnomAD v2: 11-47355144-T-C
gnomAD v3: 11-47333593-T-C
gnomAD v4: 11-47333593-T-C
MyVariant Identifiers: chr11:g.47355144T>C (hg19) chr11:g.47333593T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333593T>C , CM000673.2:g.47333593T>C GRCh38
NC_000011.9:g.47355144T>C , CM000673.1:g.47355144T>C GRCh37
NC_000011.8:g.47311720T>C NCBI36
NG_007667.1:g.24110A>G , LRG_386:g.24110A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3154A>G MANE Select ENSP00000442795.1:p.Met1052Val
ENST00000256993.8:c.3154A>G ENSP00000256993.5:p.Met1052Val
ENST00000399249.6:c.3154A>G ENSP00000382193.2:p.Met1052Val
ENST00000545968.5:c.3154A>G ENSP00000442795.1:p.Met1052Val
NM_000256.3:c.3154A>G , LRG_386t1:c.3154A>G MANE Select NP_000247.2:p.Met1052Val
XM_011520117.1:c.3136A>G XP_011518419.1:p.Met1046Val
XM_011520118.1:c.3073A>G XP_011518420.1:p.Met1025Val
Search 100 bp 5'
Search 100 bp 3'