Canonical Allele Identifier: CA118924

Linked Data

ClinVar Variation Id: 7609
dbSNP Id: rs121909129

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52306270G>A , CM000674.2:g.52306270G>A GRCh38
NC_000012.11:g.52700054G>A , CM000674.1:g.52700054G>A GRCh37
NC_000012.10:g.50986321G>A NCBI36
NG_008086.1:g.9406G>A
NG_008086.2:g.36626G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000423955.7:c.1237G>A (KRT86) MANE Select ENSP00000444533.1:p.Glu413Lys
ENST00000293525.5:c.1237G>A (KRT86) ENSP00000293525.5:p.Glu413Lys
ENST00000423955.6:c.1237G>A (KRT86) ENSP00000444533.1:p.Glu413Lys
NM_002284.3:c.1237G>A (KRT86) NP_002275.1:p.Glu413Lys
XM_005268866.3:c.1468G>A (KRT86) XP_005268923.1:p.Glu490Lys
XM_011538334.1:c.-212+1941C>T (KRT81) XP_011536636.1:n.-212+1941C>T
XM_011538336.1:c.1237G>A (KRT86) XP_011536638.1:p.Glu413Lys
XM_011538337.1:c.1237G>A (KRT86) XP_011536639.1:p.Glu413Lys
XM_011538338.1:c.1237G>A (KRT86) XP_011536640.1:p.Glu413Lys
NM_001320198.1:c.1237G>A (KRT86) NP_001307127.1:p.Glu413Lys
XM_005268866.4:c.1468G>A (KRT86) XP_005268923.1:p.Glu490Lys
XM_017019296.1:c.1237G>A (KRT86) XP_016874785.1:p.Glu413Lys
NM_001320198.2:c.1237G>A (KRT86) MANE Select NP_001307127.1:p.Glu413Lys