Canonical Allele Identifier: CA389045868
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069613
ClinVar RCV Id: RCV004008157
MyVariant Identifiers: chr14:g.23892832T>A (hg19) chr14:g.23423623T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423623T>A , CM000676.2:g.23423623T>A GRCh38
NC_000014.8:g.23892832T>A , CM000676.1:g.23892832T>A GRCh37
NC_000014.7:g.22962672T>A NCBI36
NG_007884.1:g.17039A>T , LRG_384:g.17039A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3023A>T MANE Select ENSP00000347507.3:p.Asp1008Val
ENST00000355349.3:c.3023A>T ENSP00000347507.3:p.Asp1008Val
NM_000257.3:c.3023A>T NP_000248.2:p.Asp1008Val
XR_245686.3:n.3129A>T
XM_017021340.1:c.3023A>T XP_016876829.1:p.Asp1008Val
NM_000257.4:c.3023A>T MANE Select NP_000248.2:p.Asp1008Val
Search 100 bp 5'
Search 100 bp 3'