Canonical Allele Identifier: CA8563889
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 1904893
ClinVar RCV Id: RCV002580486
dbSNP Id: rs760546497
ExAC: 17:39780760 A / G
gnomAD v2: 17-39780760-A-G
gnomAD v4: 17-41624508-A-G
MyVariant Identifiers: chr17:g.39780760A>G (hg19) chr17:g.41624508A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624508A>G , CM000679.2:g.41624508A>G GRCh38
NC_000017.10:g.39780760A>G , CM000679.1:g.39780760A>G GRCh37
NC_000017.9:g.37034286A>G NCBI36
NG_008625.1:g.5123T>C
NG_009090.2:g.167205T>C , LRG_401:g.167205T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.2T>C MANE Select ENSP00000308452.8:p.Met1Thr
ENST00000311208.12:c.2T>C ENSP00000308452.8:p.Met1Thr
ENST00000463128.5:c.-313+235T>C ENSP00000468672.1:n.-313+235T>C
ENST00000491673.1:n.68T>C
ENST00000540235.5:c.-204T>C ENSP00000441751.2:n.-204T>C
NM_000422.2:c.2T>C NP_000413.1:p.Met1Thr
NM_000422.3:c.2T>C MANE Select NP_000413.1:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'