Canonical Allele Identifier: CA389051814

Gene: MYH7

Linked Data

• gnomAD v4: 14-23430903-A-T
• MyVariant Identifiers: chr14:g.23900112A>T (hg19) ; chr14:g.23430903A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23430903A>T , CM000676.2:g.23430903A>T	GRCh38
NC_000014.8:g.23900112A>T , CM000676.1:g.23900112A>T	GRCh37
NC_000014.7:g.22969952A>T	NCBI36
NG_007884.1:g.9759T>A , LRG_384:g.9759T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.893T>A MANE Select	ENSP00000347507.3:p.Leu298Gln
ENST00000355349.3:c.893T>A	ENSP00000347507.3:p.Leu298Gln
NM_000257.3:c.893T>A	NP_000248.2:p.Leu298Gln
XR_245686.3:n.999T>A
XM_017021340.1:c.893T>A	XP_016876829.1:p.Leu298Gln
NM_000257.4:c.893T>A MANE Select	NP_000248.2:p.Leu298Gln