Canonical Allele Identifier: CA389051181

Gene: MYH7

Linked Data

• MyVariant Identifiers: chr14:g.23898520G>A (hg19) ; chr14:g.23429311G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23429311G>A , CM000676.2:g.23429311G>A	GRCh38
NC_000014.8:g.23898520G>A , CM000676.1:g.23898520G>A	GRCh37
NC_000014.7:g.22968360G>A	NCBI36
NG_007884.1:g.11351C>T , LRG_384:g.11351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.1175C>T MANE Select	ENSP00000347507.3:p.Ser392Leu
ENST00000355349.3:c.1175C>T	ENSP00000347507.3:p.Ser392Leu
NM_000257.3:c.1175C>T	NP_000248.2:p.Ser392Leu
XR_245686.3:n.1281C>T
XM_017021340.1:c.1175C>T	XP_016876829.1:p.Ser392Leu
NM_000257.4:c.1175C>T MANE Select	NP_000248.2:p.Ser392Leu