Canonical Allele Identifier: CA8563375
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 2456531
ClinVar RCV Id: RCV003173503
dbSNP Id: rs765533099
ExAC: 17:39768924 C / A
gnomAD v2: 17-39768924-C-A
gnomAD v3: 17-41612672-C-A
gnomAD v4: 17-41612672-C-A
MyVariant Identifiers: chr17:g.39768924C>A (hg19) chr17:g.41612672C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612672C>A , CM000679.2:g.41612672C>A GRCh38
NC_000017.10:g.39768924C>A , CM000679.1:g.39768924C>A GRCh37
NC_000017.9:g.37022450C>A NCBI36
NG_008301.1:g.5156G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.17G>T MANE Select ENSP00000301653.3:p.Arg6Leu
ENST00000301653.8:c.17G>T ENSP00000301653.3:p.Arg6Leu
ENST00000588319.1:n.94G>T
ENST00000590990.1:c.17G>T ENSP00000467105.1:p.Arg6Leu
ENST00000593067.1:c.-313+118G>T ENSP00000467124.1:n.-313+118G>T
NM_005557.3:c.17G>T NP_005548.2:p.Arg6Leu
NM_005557.4:c.17G>T MANE Select NP_005548.2:p.Arg6Leu
Search 100 bp 5'
Search 100 bp 3'