×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA389048460
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
849705
ClinVar RCV Id:
RCV001053725
dbSNP Id:
rs1408157651
MyVariant Identifiers:
chr14:g.23894497T>C (hg19)
chr14:g.23425288T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425288T>C , CM000676.2:g.23425288T>C
GRCh38
NC_000014.8:g.23894497T>C , CM000676.1:g.23894497T>C
GRCh37
NC_000014.7:g.22964337T>C
NCBI36
NG_007884.1:g.15374A>G , LRG_384:g.15374A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.2417A>G
MANE Select
ENSP00000347507.3:p.Glu806Gly
ENST00000355349.3:c.2417A>G
ENSP00000347507.3:p.Glu806Gly
NM_000257.3:c.2417A>G
NP_000248.2:p.Glu806Gly
XR_245686.3:n.2523A>G
XM_017021340.1:c.2417A>G
XP_016876829.1:p.Glu806Gly
NM_000257.4:c.2417A>G
MANE Select
NP_000248.2:p.Glu806Gly
Search 100 bp 5'
Search 100 bp 3'