Canonical Allele Identifier: CA279302
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 217470
ClinVar RCV Id: RCV000201487 RCV001853227 RCV002415859
dbSNP Id: rs863225101
MyVariant Identifiers: chr14:g.23895231T>C (hg19) chr14:g.23426022T>C (hg38)
PubMed: PMID:24093860
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23426022T>C , CM000676.2:g.23426022T>C GRCh38
NC_000014.8:g.23895231T>C , CM000676.1:g.23895231T>C GRCh37
NC_000014.7:g.22965071T>C NCBI36
NG_007884.1:g.14640A>G , LRG_384:g.14640A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2104A>G MANE Select ENSP00000347507.3:p.Ile702Val
ENST00000355349.3:c.2104A>G ENSP00000347507.3:p.Ile702Val
NM_000257.3:c.2104A>G NP_000248.2:p.Ile702Val
XR_245686.3:n.2210A>G
XM_017021340.1:c.2104A>G XP_016876829.1:p.Ile702Val
NM_000257.4:c.2104A>G MANE Select NP_000248.2:p.Ile702Val
Search 100 bp 5'
Search 100 bp 3'