Canonical Allele Identifier: CA217292

Gene: KRT86 KRT81

Linked Data

• ClinVar Variation Id: 66548
• ClinVar RCV Id: RCV000056962
• dbSNP Id: rs61091894
• gnomAD v3: 12-52302256-A-C
• gnomAD v4: 12-52302256-A-C
• MyVariant Identifiers: chr12:g.52696040A>C (hg19) ; chr12:g.52302256A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52302256A>C , CM000674.2:g.52302256A>C	GRCh38
NC_000012.11:g.52696040A>C , CM000674.1:g.52696040A>C	GRCh37
NC_000012.10:g.50982307A>C	NCBI36
NG_008086.1:g.5392A>C
NG_008086.2:g.32612A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423955.7:c.340A>C (KRT86) MANE Select	ENSP00000444533.1:p.Asn114His
ENST00000293525.5:c.340A>C (KRT86)	ENSP00000293525.5:p.Asn114His
ENST00000423955.6:c.340A>C (KRT86)	ENSP00000444533.1:p.Asn114His
ENST00000553310.6:c.340A>C (KRT86)	ENSP00000452237.3:p.Asn114His
NM_002284.3:c.340A>C (KRT86)	NP_002275.1:p.Asn114His
XM_005268866.3:c.571A>C (KRT86)	XP_005268923.1:p.Asn191His
XM_011538334.1:c.-211-612T>G (KRT81)	XP_011536636.1:n.-211-612T>G
XM_011538336.1:c.340A>C (KRT86)	XP_011536638.1:p.Asn114His
XM_011538337.1:c.340A>C (KRT86)	XP_011536639.1:p.Asn114His
XM_011538338.1:c.340A>C (KRT86)	XP_011536640.1:p.Asn114His
NM_001320198.1:c.340A>C (KRT86)	NP_001307127.1:p.Asn114His
XM_005268866.4:c.571A>C (KRT86)	XP_005268923.1:p.Asn191His
XM_017019296.1:c.340A>C (KRT86)	XP_016874785.1:p.Asn114His
NM_001320198.2:c.340A>C (KRT86) MANE Select	NP_001307127.1:p.Asn114His