Canonical Allele Identifier: CA474220439
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 704346
ClinVar RCV Id: RCV001459041 RCV001188575
dbSNP Id: rs1319991948
gnomAD v2: 11-47365075-G-A
gnomAD v4: 11-47343524-G-A
MyVariant Identifiers: chr11:g.47365075G>A (hg19) chr11:g.47343524G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343524G>A , CM000673.2:g.47343524G>A GRCh38
NC_000011.9:g.47365075G>A , CM000673.1:g.47365075G>A GRCh37
NC_000011.8:g.47321651G>A NCBI36
NG_007667.1:g.14179C>T , LRG_386:g.14179C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1191C>T MANE Select ENSP00000442795.1:p.Leu397=
ENST00000256993.8:c.1191C>T ENSP00000256993.5:p.Leu397=
ENST00000399249.6:c.1191C>T ENSP00000382193.2:p.Leu397=
ENST00000544791.1:c.1191C>T ENSP00000444259.1:p.Leu397=
ENST00000545968.5:c.1191C>T ENSP00000442795.1:p.Leu397=
NM_000256.3:c.1191C>T , LRG_386t1:c.1191C>T MANE Select NP_000247.2:p.Leu397=
XM_011520117.1:c.1173C>T XP_011518419.1:p.Leu391=
XM_011520118.1:c.1191C>T XP_011518420.1:p.Leu397=
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