Canonical Allele Identifier: CA389037342

Gene: MYH7 MHRT

Linked Data

• MyVariant Identifiers: chr14:g.23885242G>T (hg19) ; chr14:g.23416033G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416033G>T , CM000676.2:g.23416033G>T	GRCh38
NC_000014.8:g.23885242G>T , CM000676.1:g.23885242G>T	GRCh37
NC_000014.7:g.22955082G>T	NCBI36
NG_007884.1:g.24629C>A , LRG_384:g.24629C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.4924C>A (MYH7) MANE Select	ENSP00000347507.3:p.Gln1642Lys
ENST00000355349.3:c.4924C>A (MYH7)	ENSP00000347507.3:p.Gln1642Lys
NM_000257.3:c.4924C>A (MYH7)	NP_000248.2:p.Gln1642Lys
NR_126491.1:n.294G>T (MHRT)
XM_017021340.1:c.4924C>A (MYH7)	XP_016876829.1:p.Gln1642Lys
NM_000257.4:c.4924C>A (MYH7) MANE Select	NP_000248.2:p.Gln1642Lys