×
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:
CA16614412
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407165
ClinVar RCV Id:
RCV000473139
RCV000486340
dbSNP Id:
rs1060501432
MyVariant Identifiers:
chr14:g.23895182A>C (hg19)
chr14:g.23425973A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23425973A>C , CM000676.2:g.23425973A>C
GRCh38
NC_000014.8:g.23895182A>C , CM000676.1:g.23895182A>C
GRCh37
NC_000014.7:g.22965022A>C
NCBI36
NG_007884.1:g.14689T>G , LRG_384:g.14689T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.2153T>G
MANE Select
ENSP00000347507.3:p.Phe718Cys
ENST00000355349.3:c.2153T>G
ENSP00000347507.3:p.Phe718Cys
NM_000257.3:c.2153T>G
NP_000248.2:p.Phe718Cys
XR_245686.3:n.2259T>G
XM_017021340.1:c.2153T>G
XP_016876829.1:p.Phe718Cys
NM_000257.4:c.2153T>G
MANE Select
NP_000248.2:p.Phe718Cys
Search 100 bp 5'
Search 100 bp 3'