Canonical Allele Identifier: CA389048755

Gene: MYH7

Linked Data

• gnomAD v4: 14-23425703-G-A
• MyVariant Identifiers: chr14:g.23894912G>A (hg19) ; chr14:g.23425703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23425703G>A , CM000676.2:g.23425703G>A	GRCh38
NC_000014.8:g.23894912G>A , CM000676.1:g.23894912G>A	GRCh37
NC_000014.7:g.22964752G>A	NCBI36
NG_007884.1:g.14959C>T , LRG_384:g.14959C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2278C>T MANE Select	ENSP00000347507.3:p.His760Tyr
ENST00000355349.3:c.2278C>T	ENSP00000347507.3:p.His760Tyr
NM_000257.3:c.2278C>T	NP_000248.2:p.His760Tyr
XR_245686.3:n.2384C>T
XM_017021340.1:c.2278C>T	XP_016876829.1:p.His760Tyr
NM_000257.4:c.2278C>T MANE Select	NP_000248.2:p.His760Tyr