Canonical Allele Identifier: CA8562648
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 713211
ClinVar RCV Id: RCV000885317
dbSNP Id: rs116375751
ExAC: 17:39740626 G / C
gnomAD v2: 17-39740626-G-C
gnomAD v3: 17-41584374-G-C
gnomAD v4: 17-41584374-G-C
MyVariant Identifiers: chr17:g.39740626G>C (hg19) chr17:g.41584374G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41584374G>C , CM000679.2:g.41584374G>C GRCh38
NC_000017.10:g.39740626G>C , CM000679.1:g.39740626G>C GRCh37
NC_000017.9:g.36994152G>C NCBI36
NG_008624.1:g.7522C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.648C>G MANE Select ENSP00000167586.6:p.Ala216=
ENST00000167586.6:c.648C>G ENSP00000167586.6:p.Ala216=
ENST00000476662.1:n.98C>G
NM_000526.4:c.648C>G NP_000517.2:p.Ala216=
NM_000526.5:c.648C>G MANE Select NP_000517.3:p.Ala216=
Search 100 bp 5'
Search 100 bp 3'