Canonical Allele Identifier: CA8550311

Gene: KRT40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40978915C>T , CM000679.2:g.40978915C>T	GRCh38
NC_000017.10:g.39135167C>T , CM000679.1:g.39135167C>T	GRCh37
NC_000017.9:g.36388693C>T	NCBI36
NG_012412.1:g.13221G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001389244.1:c.1085G>A MANE Select	NP_001376173.1:p.Arg362His
ENST00000377755.9:c.1085G>A MANE Select	ENSP00000366984.4:p.Arg362His
NM_001385217.1:c.1085G>A	NP_001372146.1:p.Arg362His
NM_182497.3:c.1085G>A	NP_872303.2:p.Arg362His
NM_182497.4:c.1085G>A	NP_872303.2:p.Arg362His
NR_163403.1:n.1410G>A
ENST00000377755.8:c.1085G>A	ENSP00000366984.4:p.Arg362His
ENST00000398486.2:c.1085G>A	ENSP00000381500.2:p.Arg362His
ENST00000461923.5:c.*547G>A	ENSP00000434458.1:n.*547G>A
ENST00000684280.1:c.1085G>A	ENSP00000506768.1:p.Arg362His
XM_011524338.1:c.1085G>A	XP_011522640.1:p.Arg362His
XM_017024189.2:c.1244G>A	XP_016879678.1:p.Arg415His
XR_001752885.1:n.192-1534C>T
XR_001752886.1:n.192-1534C>T