Canonical Allele Identifier: CA041447

Gene: MYH7 MHRT

Linked Data

• ClinVar Variation Id: 390631
• ClinVar RCV Id: RCV000439419 ; RCV001184549 ; RCV001409610
• dbSNP Id: rs57680382
• ExAC: 14:23886790 G / A
• gnomAD v2: 14-23886790-G-A
• gnomAD v3: 14-23417581-G-A
• gnomAD v4: 14-23417581-G-A
• MyVariant Identifiers: chr14:g.23886790G>A (hg19) ; chr14:g.23417581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417581G>A , CM000676.2:g.23417581G>A	GRCh38
NC_000014.8:g.23886790G>A , CM000676.1:g.23886790G>A	GRCh37
NC_000014.7:g.22956630G>A	NCBI36
NG_007884.1:g.23081C>T , LRG_384:g.23081C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4275C>T (MYH7) MANE Select	ENSP00000347507.3:p.Ile1425=
ENST00000355349.3:c.4275C>T (MYH7)	ENSP00000347507.3:p.Ile1425=
NM_000257.3:c.4275C>T (MYH7)	NP_000248.2:p.Ile1425=
NR_126491.1:n.862G>A (MHRT)
XM_017021340.1:c.4275C>T (MYH7)	XP_016876829.1:p.Ile1425=
NM_000257.4:c.4275C>T (MYH7) MANE Select	NP_000248.2:p.Ile1425=