Canonical Allele Identifier: CA389046465

Gene: MYH7

Linked Data

• MyVariant Identifiers: chr14:g.23892911T>A (hg19) ; chr14:g.23423702T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23423702T>A , CM000676.2:g.23423702T>A	GRCh38
NC_000014.8:g.23892911T>A , CM000676.1:g.23892911T>A	GRCh37
NC_000014.7:g.22962751T>A	NCBI36
NG_007884.1:g.16960A>T , LRG_384:g.16960A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2944A>T MANE Select	ENSP00000347507.3:p.Met982Leu
ENST00000355349.3:c.2944A>T	ENSP00000347507.3:p.Met982Leu
NM_000257.3:c.2944A>T	NP_000248.2:p.Met982Leu
XR_245686.3:n.3050A>T
XM_017021340.1:c.2944A>T	XP_016876829.1:p.Met982Leu
NM_000257.4:c.2944A>T MANE Select	NP_000248.2:p.Met982Leu