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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:
CA216827
Gene: KRT14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14611
ClinVar RCV Id:
RCV000015715
RCV000056667
RCV003387723
dbSNP Id:
rs59629244
MyVariant Identifiers:
chr17:g.39739610A>G (hg19)
chr17:g.41583358A>G (hg38)
PubMed:
PMID:1703046
PMID:1720261
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41583358A>G , CM000679.2:g.41583358A>G
GRCh38
NC_000017.10:g.39739610A>G , CM000679.1:g.39739610A>G
GRCh37
NC_000017.9:g.36993136A>G
NCBI36
NG_008624.1:g.8538T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.1151T>C
MANE Select
ENSP00000167586.6:p.Leu384Pro
ENST00000167586.6:c.1151T>C
ENSP00000167586.6:p.Leu384Pro
ENST00000441550.2:n.98T>C
ENST00000476662.1:n.601T>C
NM_000526.4:c.1151T>C
NP_000517.2:p.Leu384Pro
NM_000526.5:c.1151T>C
MANE Select
NP_000517.3:p.Leu384Pro
Search 100 bp 5'
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