Canonical Allele Identifier: CA2123465047

Gene: MYH7 MHRT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416010C= , CM000676.2:g.23416010C=	GRCh38
NC_000014.8:g.23885219C= , CM000676.1:g.23885219C=	GRCh37
NC_000014.7:g.22955059C=	NCBI36
NG_007884.1:g.24652G= , LRG_384:g.24652G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4947G= (MYH7) MANE Select	ENSP00000347507.3:p.Leu1649=
ENST00000355349.3:c.4947G= (MYH7)	ENSP00000347507.3:p.Leu1649=
NM_000257.3:c.4947G= (MYH7)	NP_000248.2:p.Leu1649=
NR_126491.1:n.271C= (MHRT)
XM_017021340.1:c.4947G= (MYH7)	XP_016876829.1:p.Leu1649=
NM_000257.4:c.4947G= (MYH7) MANE Select	NP_000248.2:p.Leu1649=