Canonical Allele Identifier: CA8562146

Gene: KRT9

Linked Data

• ClinVar Variation Id: 323133
• ClinVar RCV Id: RCV000388854 ; RCV001653577
• dbSNP Id: rs3816510
• ExAC: 17:39726276 C / A
• gnomAD v2: 17-39726276-C-A
• gnomAD v3: 17-41570024-C-A
• gnomAD v4: 17-41570024-C-A
• MyVariant Identifiers: chr17:g.39726276C>A (hg19) ; chr17:g.41570024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41570024C>A , CM000679.2:g.41570024C>A	GRCh38
NC_000017.10:g.39726276C>A , CM000679.1:g.39726276C>A	GRCh37
NC_000017.9:g.36979802C>A	NCBI36
NG_008300.1:g.7035G>T
NG_008300.2:g.7035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246662.9:c.726-9G>T MANE Select	ENSP00000246662.4:n.726-9G>T
ENST00000246662.8:c.726-9G>T	ENSP00000246662.4:n.726-9G>T
ENST00000588431.1:c.27-9G>T	ENSP00000467932.1:n.27-9G>T
NM_000226.3:c.726-9G>T	NP_000217.2:n.726-9G>T
NM_000226.4:c.726-9G>T MANE Select	NP_000217.2:n.726-9G>T