Canonical Allele Identifier: CA399512374

Gene: KRT17

Linked Data

• ClinVar Variation Id: 1436117
• ClinVar RCV Id: RCV001974693
• dbSNP Id: rs2144616599
• gnomAD v4: 17-41624210-G-T
• MyVariant Identifiers: chr17:g.39780462G>T (hg19) ; chr17:g.41624210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41624210G>T , CM000679.2:g.41624210G>T	GRCh38
NC_000017.10:g.39780462G>T , CM000679.1:g.39780462G>T	GRCh37
NC_000017.9:g.37033988G>T	NCBI36
NG_008625.1:g.5421C>A
NG_009090.2:g.167503C>A , LRG_401:g.167503C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311208.13:c.300C>A MANE Select	ENSP00000308452.8:p.Asp100Glu
ENST00000311208.12:c.300C>A	ENSP00000308452.8:p.Asp100Glu
ENST00000463128.5:c.-312-4C>A	ENSP00000468672.1:n.-312-4C>A
ENST00000491673.1:n.366C>A
ENST00000493253.5:n.87C>A
ENST00000540235.5:c.72-19C>A	ENSP00000441751.2:n.72-19C>A
ENST00000577817.3:c.255C>A	ENSP00000467418.1:p.Asp85Glu
NM_000422.2:c.300C>A	NP_000413.1:p.Asp100Glu
NM_000422.3:c.300C>A MANE Select	NP_000413.1:p.Asp100Glu