Canonical Allele Identifier: CA384919097

Gene: KRT86 KRT81

Linked Data

• ClinVar Variation Id: 2535341
• ClinVar RCV Id: RCV003260936
• dbSNP Id: rs1441954577
• gnomAD v3: 12-52306181-C-A
• gnomAD v4: 12-52306181-C-A
• MyVariant Identifiers: chr12:g.52699965C>A (hg19) ; chr12:g.52306181C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52306181C>A , CM000674.2:g.52306181C>A	GRCh38
NC_000012.11:g.52699965C>A , CM000674.1:g.52699965C>A	GRCh37
NC_000012.10:g.50986232C>A	NCBI36
NG_008086.1:g.9317C>A
NG_008086.2:g.36537C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000423955.7:c.1148C>A (KRT86) MANE Select	ENSP00000444533.1:p.Ala383Asp
ENST00000293525.5:c.1148C>A (KRT86)	ENSP00000293525.5:p.Ala383Asp
ENST00000423955.6:c.1148C>A (KRT86)	ENSP00000444533.1:p.Ala383Asp
NM_002284.3:c.1148C>A (KRT86)	NP_002275.1:p.Ala383Asp
XM_005268866.3:c.1379C>A (KRT86)	XP_005268923.1:p.Ala460Asp
XM_011538334.1:c.-212+2030G>T (KRT81)	XP_011536636.1:n.-212+2030G>T
XM_011538336.1:c.1148C>A (KRT86)	XP_011536638.1:p.Ala383Asp
XM_011538337.1:c.1148C>A (KRT86)	XP_011536639.1:p.Ala383Asp
XM_011538338.1:c.1148C>A (KRT86)	XP_011536640.1:p.Ala383Asp
NM_001320198.1:c.1148C>A (KRT86)	NP_001307127.1:p.Ala383Asp
XM_005268866.4:c.1379C>A (KRT86)	XP_005268923.1:p.Ala460Asp
XM_017019296.1:c.1148C>A (KRT86)	XP_016874785.1:p.Ala383Asp
NM_001320198.2:c.1148C>A (KRT86) MANE Select	NP_001307127.1:p.Ala383Asp