Canonical Allele Identifier: CA048081

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 1967892
• ClinVar RCV Id: RCV002727092
• dbSNP Id: rs2095886277
• gnomAD v3: 11-47339672-G-A
• gnomAD v4: 11-47339672-G-A
• MyVariant Identifiers: chr11:g.47361223G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339672G>A , CM000673.2:g.47339672G>A	GRCh38
NC_000011.9:g.47361223G>A , CM000673.1:g.47361223G>A	GRCh37
NC_000011.8:g.47317799G>A	NCBI36
NG_007667.1:g.18031C>T , LRG_386:g.18031C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2046C>T MANE Select	ENSP00000442795.1:p.Ile682=
ENST00000256993.8:c.2046C>T	ENSP00000256993.5:p.Ile682=
ENST00000399249.6:c.2046C>T	ENSP00000382193.2:p.Ile682=
ENST00000544791.1:c.2046C>T	ENSP00000444259.1:p.Ile682=
ENST00000545968.5:c.2046C>T	ENSP00000442795.1:p.Ile682=
NM_000256.3:c.2046C>T , LRG_386t1:c.2046C>T MANE Select	NP_000247.2:p.Ile682=
XM_011520117.1:c.2028C>T	XP_011518419.1:p.Ile676=
XM_011520118.1:c.2046C>T	XP_011518420.1:p.Ile682=