Canonical Allele Identifier: CA013436
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42950
ClinVar RCV Id: RCV000035843 RCV000244617 RCV000475413 RCV000766440 RCV001190251
dbSNP Id: rs397516179
ExAC: 14:23891465 C / T
gnomAD v2: 14-23891465-C-T
gnomAD v3: 14-23422256-C-T
gnomAD v4: 14-23422256-C-T
MyVariant Identifiers: chr14:g.23891465C>T (hg19) chr14:g.23422256C>T (hg38)
ERepo: CA013436/MONDO:0005045/002
PubMed: PMID:15358028 PMID:16199542 PMID:24510615 PMID:27532257 PMID:29300372
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422256C>T , CM000676.2:g.23422256C>T GRCh38
NC_000014.8:g.23891465C>T , CM000676.1:g.23891465C>T GRCh37
NC_000014.7:g.22961305C>T NCBI36
NG_007884.1:g.18406G>A , LRG_384:g.18406G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3169G>A MANE Select ENSP00000347507.3:p.Gly1057Ser
ENST00000355349.3:c.3169G>A ENSP00000347507.3:p.Gly1057Ser
NM_000257.3:c.3169G>A NP_000248.2:p.Gly1057Ser
XR_245686.3:n.3275G>A
XM_017021340.1:c.3169G>A XP_016876829.1:p.Gly1057Ser
NM_000257.4:c.3169G>A MANE Select NP_000248.2:p.Gly1057Ser
Search 100 bp 5'
Search 100 bp 3'