Canonical Allele Identifier: CA380327593

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47343113-G-A
• MyVariant Identifiers: chr11:g.47364664G>A (hg19) ; chr11:g.47343113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343113G>A , CM000673.2:g.47343113G>A	GRCh38
NC_000011.9:g.47364664G>A , CM000673.1:g.47364664G>A	GRCh37
NC_000011.8:g.47321240G>A	NCBI36
NG_007667.1:g.14590C>T , LRG_386:g.14590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1259C>T MANE Select	ENSP00000442795.1:p.Thr420Ile
ENST00000256993.8:c.1259C>T	ENSP00000256993.5:p.Thr420Ile
ENST00000399249.6:c.1259C>T	ENSP00000382193.2:p.Thr420Ile
ENST00000544791.1:c.1259C>T	ENSP00000444259.1:p.Thr420Ile
ENST00000545968.5:c.1259C>T	ENSP00000442795.1:p.Thr420Ile
NM_000256.3:c.1259C>T , LRG_386t1:c.1259C>T MANE Select	NP_000247.2:p.Thr420Ile
XM_011520117.1:c.1241C>T	XP_011518419.1:p.Thr414Ile
XM_011520118.1:c.1259C>T	XP_011518420.1:p.Thr420Ile