Canonical Allele Identifier: CA380321722
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 878445
ClinVar RCV Id: RCV001105028 RCV001105029 RCV001327250 RCV003486961
dbSNP Id: rs2095886397
gnomAD v4: 11-47339727-C-A
MyVariant Identifiers: chr11:g.47361278C>A (hg19) chr11:g.47339727C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339727C>A , CM000673.2:g.47339727C>A GRCh38
NC_000011.9:g.47361278C>A , CM000673.1:g.47361278C>A GRCh37
NC_000011.8:g.47317854C>A NCBI36
NG_007667.1:g.17976G>T , LRG_386:g.17976G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1991G>T MANE Select ENSP00000442795.1:p.Gly664Val
ENST00000256993.8:c.1991G>T ENSP00000256993.5:p.Gly664Val
ENST00000399249.6:c.1991G>T ENSP00000382193.2:p.Gly664Val
ENST00000544791.1:c.1991G>T ENSP00000444259.1:p.Gly664Val
ENST00000545968.5:c.1991G>T ENSP00000442795.1:p.Gly664Val
NM_000256.3:c.1991G>T , LRG_386t1:c.1991G>T MANE Select NP_000247.2:p.Gly664Val
XM_011520117.1:c.1973G>T XP_011518419.1:p.Gly658Val
XM_011520118.1:c.1991G>T XP_011518420.1:p.Gly664Val
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