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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:
CA399483160
Gene: KRT14
HGNC
NCBI
Linked Data
dbSNP Id:
rs1367015717
gnomAD v2:
17-39742909-C-T
gnomAD v4:
17-41586657-C-T
MyVariant Identifiers:
chr17:g.39742909C>T (hg19)
chr17:g.41586657C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.41586657C>T , CM000679.2:g.41586657C>T
GRCh38
NC_000017.10:g.39742909C>T , CM000679.1:g.39742909C>T
GRCh37
NC_000017.9:g.36996435C>T
NCBI36
NG_008624.1:g.5239G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000167586.7:c.178G>A
MANE Select
ENSP00000167586.6:p.Gly60Arg
ENST00000167586.6:c.178G>A
ENSP00000167586.6:p.Gly60Arg
NM_000526.4:c.178G>A
NP_000517.2:p.Gly60Arg
NM_000526.5:c.178G>A
MANE Select
NP_000517.3:p.Gly60Arg
Search 100 bp 5'
Search 100 bp 3'