Canonical Allele Identifier: CA016427

Gene: MYH7

Linked Data

• ClinVar Variation Id: 43086
• ClinVar RCV Id: RCV000035981 ; RCV000554421 ; RCV000618874 ; RCV000758049 ; RCV001529452
• dbSNP Id: rs200728597
• ExAC: 14:23883022 G / A
• gnomAD v2: 14-23883022-G-A
• gnomAD v3: 14-23413813-G-A
• gnomAD v4: 14-23413813-G-A
• COSMIC: COSM954735
• MyVariant Identifiers: chr14:g.23883022G>A (hg19) ; chr14:g.23413813G>A (hg38)
• PubMed: PMID:29300372
• ERepo: CA016427/MONDO:0004994/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23413813G>A , CM000676.2:g.23413813G>A	GRCh38
NC_000014.8:g.23883022G>A , CM000676.1:g.23883022G>A	GRCh37
NC_000014.7:g.22952862G>A	NCBI36
NG_007884.1:g.26849C>T , LRG_384:g.26849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5736C>T MANE Select	ENSP00000347507.3:p.Ile1912=
ENST00000355349.3:c.5736C>T	ENSP00000347507.3:p.Ile1912=
NM_000257.3:c.5736C>T	NP_000248.2:p.Ile1912=
XM_017021340.1:c.5736C>T	XP_016876829.1:p.Ile1912=
NM_000257.4:c.5736C>T MANE Select	NP_000248.2:p.Ile1912=