Canonical Allele Identifier: CA8563268
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 2519518
ClinVar RCV Id: RCV003270203
dbSNP Id: rs749993664
ExAC: 17:39768493 G / A
gnomAD v2: 17-39768493-G-A
gnomAD v4: 17-41612241-G-A
COSMIC: COSM6373727
MyVariant Identifiers: chr17:g.39768493G>A (hg19) chr17:g.41612241G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612241G>A , CM000679.2:g.41612241G>A GRCh38
NC_000017.10:g.39768493G>A , CM000679.1:g.39768493G>A GRCh37
NC_000017.9:g.37022019G>A NCBI36
NG_008301.1:g.5587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.448C>T MANE Select ENSP00000301653.3:p.Arg150Cys
ENST00000301653.8:c.448C>T ENSP00000301653.3:p.Arg150Cys
ENST00000588319.1:n.525C>T
ENST00000593067.1:c.-267C>T ENSP00000467124.1:n.-267C>T
NM_005557.3:c.448C>T NP_005548.2:p.Arg150Cys
NM_005557.4:c.448C>T MANE Select NP_005548.2:p.Arg150Cys
Search 100 bp 5'
Search 100 bp 3'