Canonical Allele Identifier: CA016898
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164386
ClinVar RCV Id: RCV000151306 RCV000158769 RCV001304622
dbSNP Id: rs727503274
MyVariant Identifiers: chr14:g.23900157T>C (hg19) chr14:g.23430948T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23430948T>C , CM000676.2:g.23430948T>C GRCh38
NC_000014.8:g.23900157T>C , CM000676.1:g.23900157T>C GRCh37
NC_000014.7:g.22969997T>C NCBI36
NG_007884.1:g.9714A>G , LRG_384:g.9714A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.848A>G MANE Select ENSP00000347507.3:p.Tyr283Cys
ENST00000355349.3:c.848A>G ENSP00000347507.3:p.Tyr283Cys
NM_000257.3:c.848A>G NP_000248.2:p.Tyr283Cys
XR_245686.3:n.954A>G
XM_017021340.1:c.848A>G XP_016876829.1:p.Tyr283Cys
NM_000257.4:c.848A>G MANE Select NP_000248.2:p.Tyr283Cys
Search 100 bp 5'
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