Canonical Allele Identifier: CA8563371
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 726380
ClinVar RCV Id: RCV000900590
dbSNP Id: rs184161015
ExAC: 17:39768887 G / T
gnomAD v2: 17-39768887-G-T
gnomAD v3: 17-41612635-G-T
gnomAD v4: 17-41612635-G-T
MyVariant Identifiers: chr17:g.39768887G>T (hg19) chr17:g.41612635G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612635G>T , CM000679.2:g.41612635G>T GRCh38
NC_000017.10:g.39768887G>T , CM000679.1:g.39768887G>T GRCh37
NC_000017.9:g.37022413G>T NCBI36
NG_008301.1:g.5193C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.54C>A MANE Select ENSP00000301653.3:p.Cys18Ter
ENST00000301653.8:c.54C>A ENSP00000301653.3:p.Cys18Ter
ENST00000588319.1:n.131C>A
ENST00000590990.1:c.54C>A ENSP00000467105.1:p.Cys18Ter
ENST00000593067.1:c.-313+155C>A ENSP00000467124.1:n.-313+155C>A
NM_005557.3:c.54C>A NP_005548.2:p.Cys18Ter
NM_005557.4:c.54C>A MANE Select NP_005548.2:p.Cys18Ter
Search 100 bp 5'
Search 100 bp 3'