Canonical Allele Identifier: CA013640
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42957
ClinVar RCV Id: RCV000035850 RCV000247600 RCV000229445 RCV000336834 RCV000385477 RCV000392592 RCV000758052 RCV001094209 RCV001172072 RCV003320067 RCV002490488
dbSNP Id: rs45554236
ExAC: 14:23889429 C / T
gnomAD v2: 14-23889429-C-T
gnomAD v3: 14-23420220-C-T
gnomAD v4: 14-23420220-C-T
MyVariant Identifiers: chr14:g.23889429C>T (hg19) chr14:g.23420220C>T (hg38)
PubMed: PMID:20800588 PMID:29300372
ERepo: CA013640/MONDO:0004994/002
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420220C>T , CM000676.2:g.23420220C>T GRCh38
NC_000014.8:g.23889429C>T , CM000676.1:g.23889429C>T GRCh37
NC_000014.7:g.22959269C>T NCBI36
NG_007884.1:g.20442G>A , LRG_384:g.20442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3351G>A MANE Select ENSP00000347507.3:p.Glu1117=
ENST00000355349.3:c.3351G>A ENSP00000347507.3:p.Glu1117=
NM_000257.3:c.3351G>A NP_000248.2:p.Glu1117=
XR_245686.3:n.3459G>A
XM_017021340.1:c.3351G>A XP_016876829.1:p.Glu1117=
NM_000257.4:c.3351G>A MANE Select NP_000248.2:p.Glu1117=
Search 100 bp 5'
Search 100 bp 3'