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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
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Canonical Allele Identifier:
CA10581181
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235036
ClinVar RCV Id:
RCV000223777
RCV003586170
dbSNP Id:
rs876661376
MyVariant Identifiers:
chr14:g.23900809G>C (hg19)
chr14:g.23431600G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23431600G>C , CM000676.2:g.23431600G>C
GRCh38
NC_000014.8:g.23900809G>C , CM000676.1:g.23900809G>C
GRCh37
NC_000014.7:g.22970649G>C
NCBI36
NG_007884.1:g.9062C>G , LRG_384:g.9062C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000355349.4:c.717C>G
MANE Select
ENSP00000347507.3:p.Asp239Glu
ENST00000355349.3:c.717C>G
ENSP00000347507.3:p.Asp239Glu
NM_000257.3:c.717C>G
NP_000248.2:p.Asp239Glu
XR_245686.3:n.823C>G
XM_017021340.1:c.717C>G
XP_016876829.1:p.Asp239Glu
NM_000257.4:c.717C>G
MANE Select
NP_000248.2:p.Asp239Glu
Search 100 bp 5'
Search 100 bp 3'