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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:
CA216907
Gene: KRT14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66343
ClinVar RCV Id:
RCV000056711
dbSNP Id:
rs60993843
MyVariant Identifiers:
chr17:g.39742728T>C (hg19)
chr17:g.41586476T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586476T>C , CM000679.2:g.41586476T>C
GRCh38
NC_000017.10:g.39742728T>C , CM000679.1:g.39742728T>C
GRCh37
NC_000017.9:g.36996254T>C
NCBI36
NG_008624.1:g.5420A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000167586.7:c.359A>G
MANE Select
ENSP00000167586.6:p.Gln120Arg
ENST00000167586.6:c.359A>G
ENSP00000167586.6:p.Gln120Arg
NM_000526.4:c.359A>G
NP_000517.2:p.Gln120Arg
NM_000526.5:c.359A>G
MANE Select
NP_000517.3:p.Gln120Arg
Search 100 bp 5'
Search 100 bp 3'