Canonical Allele Identifier: CA8562576
Gene: KRT14 HGNC NCBI

Linked Data

ClinVar Variation Id: 2986204
ClinVar RCV Id: RCV003843875
dbSNP Id: rs770184456
ExAC: 17:39739995 C / G
gnomAD v2: 17-39739995-C-G
gnomAD v3: 17-41583743-C-G
gnomAD v4: 17-41583743-C-G
MyVariant Identifiers: chr17:g.39739995C>G (hg19) chr17:g.41583743C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583743C>G , CM000679.2:g.41583743C>G GRCh38
NC_000017.10:g.39739995C>G , CM000679.1:g.39739995C>G GRCh37
NC_000017.9:g.36993521C>G NCBI36
NG_008624.1:g.8153G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.927+17G>C MANE Select ENSP00000167586.6:n.927+17G>C
ENST00000167586.6:c.927+17G>C ENSP00000167586.6:n.927+17G>C
ENST00000476662.1:n.377+17G>C
NM_000526.4:c.927+17G>C NP_000517.2:n.927+17G>C
NM_000526.5:c.927+17G>C MANE Select NP_000517.3:n.927+17G>C
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