Canonical Allele Identifier: CA380318543

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47337574-T-A
• MyVariant Identifiers: chr11:g.47359125T>A (hg19) ; chr11:g.47337574T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47337574T>A , CM000673.2:g.47337574T>A	GRCh38
NC_000011.9:g.47359125T>A , CM000673.1:g.47359125T>A	GRCh37
NC_000011.8:g.47315701T>A	NCBI36
NG_007667.1:g.20129A>T , LRG_386:g.20129A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.2419A>T MANE Select	ENSP00000442795.1:p.Ile807Phe
ENST00000256993.8:c.2419A>T	ENSP00000256993.5:p.Ile807Phe
ENST00000399249.6:c.2419A>T	ENSP00000382193.2:p.Ile807Phe
ENST00000544791.1:c.2414-63A>T	ENSP00000444259.1:n.2414-63A>T
ENST00000545968.5:c.2419A>T	ENSP00000442795.1:p.Ile807Phe
NM_000256.3:c.2419A>T , LRG_386t1:c.2419A>T MANE Select	NP_000247.2:p.Ile807Phe
XM_011520117.1:c.2401A>T	XP_011518419.1:p.Ile801Phe
XM_011520118.1:c.2338A>T	XP_011518420.1:p.Ile780Phe