Canonical Allele Identifier: CA014914

Gene: MYH7

Linked Data

• dbSNP Id: rs730880835
• MyVariant Identifiers: chr14:g.23901913T>A (hg19) ; chr14:g.23432704T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23432704T>A , CM000676.2:g.23432704T>A	GRCh38
NC_000014.8:g.23901913T>A , CM000676.1:g.23901913T>A	GRCh37
NC_000014.7:g.22971753T>A	NCBI36
NG_007884.1:g.7958A>T , LRG_384:g.7958A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.437A>T MANE Select	ENSP00000347507.3:p.Lys146Met
ENST00000355349.3:c.437A>T	ENSP00000347507.3:p.Lys146Met
NM_000257.3:c.437A>T	NP_000248.2:p.Lys146Met
XR_245686.3:n.543A>T
XM_017021340.1:c.437A>T	XP_016876829.1:p.Lys146Met
NM_000257.4:c.437A>T MANE Select	NP_000248.2:p.Lys146Met