Canonical Allele Identifier: CA013153
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42937
ClinVar RCV Id: RCV000035830 RCV000656920 RCV000770486 RCV001362171 RCV004017297
dbSNP Id: rs397516175
ExAC: 14:23893192 T / A
gnomAD v2: 14-23893192-T-A
gnomAD v3: 14-23423983-T-A
gnomAD v4: 14-23423983-T-A
MyVariant Identifiers: chr14:g.23893192T>A (hg19) chr14:g.23423983T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423983T>A , CM000676.2:g.23423983T>A GRCh38
NC_000014.8:g.23893192T>A , CM000676.1:g.23893192T>A GRCh37
NC_000014.7:g.22963032T>A NCBI36
NG_007884.1:g.16679A>T , LRG_384:g.16679A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2846A>T MANE Select ENSP00000347507.3:p.Glu949Val
ENST00000355349.3:c.2846A>T ENSP00000347507.3:p.Glu949Val
NM_000257.3:c.2846A>T NP_000248.2:p.Glu949Val
XR_245686.3:n.2952A>T
XM_017021340.1:c.2846A>T XP_016876829.1:p.Glu949Val
NM_000257.4:c.2846A>T MANE Select NP_000248.2:p.Glu949Val
Search 100 bp 5'
Search 100 bp 3'