Canonical Allele Identifier: CA8560623

Gene: KRT13

Linked Data

• ClinVar Variation Id: 323085
• ClinVar RCV Id: RCV000274565 ; RCV000895674
• dbSNP Id: rs535020030
• ExAC: 17:39659217 C / T
• gnomAD v2: 17-39659217-C-T
• gnomAD v3: 17-41502965-C-T
• gnomAD v4: 17-41502965-C-T
• MyVariant Identifiers: chr17:g.39659217C>T (hg19) ; chr17:g.41502965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41502965C>T , CM000679.2:g.41502965C>T	GRCh38
NC_000017.10:g.39659217C>T , CM000679.1:g.39659217C>T	GRCh37
NC_000017.9:g.36912743C>T	NCBI36
NG_008406.1:g.7649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246635.8:c.869G>A MANE Select	ENSP00000246635.3:p.Arg290Gln
ENST00000246635.7:c.869G>A	ENSP00000246635.3:p.Arg290Gln
ENST00000336861.7:c.869G>A	ENSP00000336604.3:p.Arg290Gln
ENST00000464634.2:c.*466G>A	ENSP00000466525.1:n.*466G>A
ENST00000468313.5:n.705G>A
ENST00000587544.5:c.869G>A	ENSP00000468221.1:p.Arg290Gln
NM_002274.3:c.869G>A	NP_002265.2:p.Arg290Gln
NM_153490.2:c.869G>A	NP_705694.2:p.Arg290Gln
NM_153490.3:c.869G>A MANE Select	NP_705694.3:p.Arg290Gln
NM_002274.4:c.869G>A	NP_002265.3:p.Arg290Gln