Canonical Allele Identifier: CA8563558

Gene: KRT17

Linked Data

• ClinVar Variation Id: 523369
• ClinVar RCV Id: RCV000626685
• dbSNP Id: rs370554150
• ExAC: 17:39777213 C / T
• gnomAD v2: 17-39777213-C-T
• gnomAD v4: 17-41620961-C-T
• MyVariant Identifiers: chr17:g.39777213C>T (hg19) ; chr17:g.41620961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41620961C>T , CM000679.2:g.41620961C>T	GRCh38
NC_000017.10:g.39777213C>T , CM000679.1:g.39777213C>T	GRCh37
NC_000017.9:g.37030739C>T	NCBI36
NG_008625.1:g.8670G>A
NG_009090.2:g.170752G>A , LRG_401:g.170752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311208.13:c.960+5G>A MANE Select	ENSP00000308452.8:n.960+5G>A
ENST00000649249.1:n.236+5G>A
ENST00000311208.12:c.960+5G>A	ENSP00000308452.8:n.960+5G>A
ENST00000493253.5:n.1347+5G>A
ENST00000540235.5:c.711+5G>A	ENSP00000441751.2:n.711+5G>A
NM_000422.2:c.960+5G>A	NP_000413.1:n.960+5G>A
NM_000422.3:c.960+5G>A MANE Select	NP_000413.1:n.960+5G>A