Canonical Allele Identifier: CA8562529
Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs201000208
ExAC: 17:39739790 G / A
gnomAD v2: 17-39739790-G-A
gnomAD v3: 17-41583538-G-A
gnomAD v4: 17-41583538-G-A
MyVariant Identifiers: chr17:g.39739790G>A (hg19) chr17:g.41583538G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41583538G>A , CM000679.2:g.41583538G>A GRCh38
NC_000017.10:g.39739790G>A , CM000679.1:g.39739790G>A GRCh37
NC_000017.9:g.36993316G>A NCBI36
NG_008624.1:g.8358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000167586.7:c.1053+13C>T MANE Select ENSP00000167586.6:n.1053+13C>T
ENST00000167586.6:c.1053+13C>T ENSP00000167586.6:n.1053+13C>T
ENST00000476662.1:n.503+13C>T
NM_000526.4:c.1053+13C>T NP_000517.2:n.1053+13C>T
NM_000526.5:c.1053+13C>T MANE Select NP_000517.3:n.1053+13C>T
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