Canonical Allele Identifier: CA043517

Gene: MYH7 MHRT

Linked Data

• ClinVar Variation Id: 918262
• ClinVar RCV Id: RCV001175759 ; RCV001416720
• dbSNP Id: rs775491087
• ExAC: 14:23885489 G / T
• gnomAD v2: 14-23885489-G-T
• gnomAD v4: 14-23416280-G-T
• MyVariant Identifiers: chr14:g.23885489G>T (hg19) ; chr14:g.23416280G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416280G>T , CM000676.2:g.23416280G>T	GRCh38
NC_000014.8:g.23885489G>T , CM000676.1:g.23885489G>T	GRCh37
NC_000014.7:g.22955329G>T	NCBI36
NG_007884.1:g.24382C>A , LRG_384:g.24382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4677C>A (MYH7) MANE Select	ENSP00000347507.3:p.Leu1559=
ENST00000355349.3:c.4677C>A (MYH7)	ENSP00000347507.3:p.Leu1559=
NM_000257.3:c.4677C>A (MYH7)	NP_000248.2:p.Leu1559=
NR_126491.1:n.541G>T (MHRT)
XM_017021340.1:c.4677C>A (MYH7)	XP_016876829.1:p.Leu1559=
NM_000257.4:c.4677C>A (MYH7) MANE Select	NP_000248.2:p.Leu1559=