Canonical Allele Identifier: CA011642
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 177627
ClinVar RCV Id: RCV000663405 RCV000786922 RCV000618360 RCV000628970 RCV001723720 RCV003531980
dbSNP Id: rs727504240
ExAC: 14:23895255 G / A
gnomAD v2: 14-23895255-G-A
gnomAD v3: 14-23426046-G-A
gnomAD v4: 14-23426046-G-A
MyVariant Identifiers: chr14:g.23895255G>A (hg19) chr14:g.23426046G>A (hg38)
ERepo: CA011642/MONDO:0005045/002
PubMed: PMID:10563488 PMID:12566107 PMID:15114369 PMID:15358028 PMID:15519027 PMID:18761664 PMID:20819418 PMID:22811549 PMID:23197161 PMID:23674513 PMID:25611685 PMID:27247418 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23426046G>A , CM000676.2:g.23426046G>A GRCh38
NC_000014.8:g.23895255G>A , CM000676.1:g.23895255G>A GRCh37
NC_000014.7:g.22965095G>A NCBI36
NG_007884.1:g.14616C>T , LRG_384:g.14616C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2080C>T MANE Select ENSP00000347507.3:p.Arg694Cys
ENST00000355349.3:c.2080C>T ENSP00000347507.3:p.Arg694Cys
NM_000257.3:c.2080C>T NP_000248.2:p.Arg694Cys
XR_245686.3:n.2186C>T
XM_017021340.1:c.2080C>T XP_016876829.1:p.Arg694Cys
NM_000257.4:c.2080C>T MANE Select NP_000248.2:p.Arg694Cys
Search 100 bp 5'
Search 100 bp 3'