Canonical Allele Identifier: CA389037292

Gene: MYH7 MHRT

Linked Data

• MyVariant Identifiers: chr14:g.23885220A>G (hg19) ; chr14:g.23416011A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416011A>G , CM000676.2:g.23416011A>G	GRCh38
NC_000014.8:g.23885220A>G , CM000676.1:g.23885220A>G	GRCh37
NC_000014.7:g.22955060A>G	NCBI36
NG_007884.1:g.24651T>C , LRG_384:g.24651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4946T>C (MYH7) MANE Select	ENSP00000347507.3:p.Leu1649Ser
ENST00000355349.3:c.4946T>C (MYH7)	ENSP00000347507.3:p.Leu1649Ser
NM_000257.3:c.4946T>C (MYH7)	NP_000248.2:p.Leu1649Ser
NR_126491.1:n.272A>G (MHRT)
XM_017021340.1:c.4946T>C (MYH7)	XP_016876829.1:p.Leu1649Ser
NM_000257.4:c.4946T>C (MYH7) MANE Select	NP_000248.2:p.Leu1649Ser