Canonical Allele Identifier: CA8563349
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 1600047
ClinVar RCV Id: RCV002132110 RCV003978711
dbSNP Id: rs111383277
ExAC: 17:39768820 G / A
gnomAD v2: 17-39768820-G-A
gnomAD v3: 17-41612568-G-A
gnomAD v4: 17-41612568-G-A
MyVariant Identifiers: chr17:g.39768820G>A (hg19) chr17:g.41612568G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612568G>A , CM000679.2:g.41612568G>A GRCh38
NC_000017.10:g.39768820G>A , CM000679.1:g.39768820G>A GRCh37
NC_000017.9:g.37022346G>A NCBI36
NG_008301.1:g.5260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.121C>T MANE Select ENSP00000301653.3:p.Arg41Cys
ENST00000301653.8:c.121C>T ENSP00000301653.3:p.Arg41Cys
ENST00000588319.1:n.198C>T
ENST00000590990.1:c.121C>T ENSP00000467105.1:p.Arg41Cys
ENST00000593067.1:c.-313+222C>T ENSP00000467124.1:n.-313+222C>T
NM_005557.3:c.121C>T NP_005548.2:p.Arg41Cys
NM_005557.4:c.121C>T MANE Select NP_005548.2:p.Arg41Cys
Search 100 bp 5'
Search 100 bp 3'