Canonical Allele Identifier: CA500206465
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs1440582975
gnomAD v2: 17-39768836-C-A
gnomAD v4: 17-41612584-C-A
COSMIC: COSM706358
MyVariant Identifiers: chr17:g.39768836C>A (hg19) chr17:g.41612584C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612584C>A , CM000679.2:g.41612584C>A GRCh38
NC_000017.10:g.39768836C>A , CM000679.1:g.39768836C>A GRCh37
NC_000017.9:g.37022362C>A NCBI36
NG_008301.1:g.5244G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.105G>T MANE Select ENSP00000301653.3:p.Leu35=
ENST00000301653.8:c.105G>T ENSP00000301653.3:p.Leu35=
ENST00000588319.1:n.182G>T
ENST00000590990.1:c.105G>T ENSP00000467105.1:p.Leu35=
ENST00000593067.1:c.-313+206G>T ENSP00000467124.1:n.-313+206G>T
NM_005557.3:c.105G>T NP_005548.2:p.Leu35=
NM_005557.4:c.105G>T MANE Select NP_005548.2:p.Leu35=
Search 100 bp 5'
Search 100 bp 3'