Canonical Allele Identifier: CA389052031

Gene: MYH7

Linked Data

• MyVariant Identifiers: chr14:g.23900625A>T (hg19) ; chr14:g.23431416A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23431416A>T , CM000676.2:g.23431416A>T	GRCh38
NC_000014.8:g.23900625A>T , CM000676.1:g.23900625A>T	GRCh37
NC_000014.7:g.22970465A>T	NCBI36
NG_007884.1:g.9246T>A , LRG_384:g.9246T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.796+2T>A MANE Select	ENSP00000347507.3:n.796+2T>A
ENST00000355349.3:c.796+2T>A	ENSP00000347507.3:n.796+2T>A
NM_000257.3:c.796+2T>A	NP_000248.2:n.796+2T>A
XR_245686.3:n.902+2T>A
XM_017021340.1:c.796+2T>A	XP_016876829.1:n.796+2T>A
NM_000257.4:c.796+2T>A MANE Select	NP_000248.2:n.796+2T>A