Canonical Allele Identifier: CA012605
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42915
ClinVar RCV Id: RCV000035804 RCV000228149 RCV000758050 RCV004541073
dbSNP Id: rs144291282
ExAC: 14:23894104 G / T
gnomAD v2: 14-23894104-G-T
gnomAD v3: 14-23424895-G-T
gnomAD v4: 14-23424895-G-T
MyVariant Identifiers: chr14:g.23894104G>T (hg19) chr14:g.23424895G>T (hg38)
PubMed: PMID:29300372
ERepo: CA012605/MONDO:0004994/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424895G>T , CM000676.2:g.23424895G>T GRCh38
NC_000014.8:g.23894104G>T , CM000676.1:g.23894104G>T GRCh37
NC_000014.7:g.22963944G>T NCBI36
NG_007884.1:g.15767C>A , LRG_384:g.15767C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2553C>A MANE Select ENSP00000347507.3:p.Ser851=
ENST00000355349.3:c.2553C>A ENSP00000347507.3:p.Ser851=
NM_000257.3:c.2553C>A NP_000248.2:p.Ser851=
XR_245686.3:n.2659C>A
XM_017021340.1:c.2553C>A XP_016876829.1:p.Ser851=
NM_000257.4:c.2553C>A MANE Select NP_000248.2:p.Ser851=
Search 100 bp 5'
Search 100 bp 3'