Canonical Allele Identifier: CA8563367
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 1962790
ClinVar RCV Id: RCV002710677
dbSNP Id: rs779409999
ExAC: 17:39768880 C / T
gnomAD v2: 17-39768880-C-T
gnomAD v3: 17-41612628-C-T
gnomAD v4: 17-41612628-C-T
MyVariant Identifiers: chr17:g.39768880C>T (hg19) chr17:g.41612628C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612628C>T , CM000679.2:g.41612628C>T GRCh38
NC_000017.10:g.39768880C>T , CM000679.1:g.39768880C>T GRCh37
NC_000017.9:g.37022406C>T NCBI36
NG_008301.1:g.5200G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.61G>A MANE Select ENSP00000301653.3:p.Gly21Arg
ENST00000301653.8:c.61G>A ENSP00000301653.3:p.Gly21Arg
ENST00000588319.1:n.138G>A
ENST00000590990.1:c.61G>A ENSP00000467105.1:p.Gly21Arg
ENST00000593067.1:c.-313+162G>A ENSP00000467124.1:n.-313+162G>A
NM_005557.3:c.61G>A NP_005548.2:p.Gly21Arg
NM_005557.4:c.61G>A MANE Select NP_005548.2:p.Gly21Arg
Search 100 bp 5'
Search 100 bp 3'