Canonical Allele Identifier: CA2838199586

Gene: CNIH3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.224519920A>G , CM000663.2:g.224519920A>G	GRCh38
NC_000001.10:g.224707622A>G , CM000663.1:g.224707622A>G	GRCh37
NC_000001.9:g.222774245A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470602.2:n.16-1080A>G
ENST00000471578.5:n.339+4044A>G
ENST00000483512.5:n.413-1080A>G
ENST00000496372.1:n.230-1080A>G
ENST00000498126.5:n.556-1080A>G
XM_005273075.2:c.-31+4044A>G	XP_005273132.2:n.-31+4044A>G
XM_011544101.1:c.-31+4044A>G	XP_011542403.1:n.-31+4044A>G
XM_011544102.1:c.-31+4044A>G	XP_011542404.1:n.-31+4044A>G
XM_011544103.1:c.-31+4044A>G	XP_011542405.1:n.-31+4044A>G
XM_011544104.1:c.-31+4044A>G	XP_011542406.1:n.-31+4044A>G
XM_011544105.1:c.-31+4044A>G	XP_011542407.1:n.-31+4044A>G
XM_011544106.1:c.-31+4044A>G	XP_011542408.1:n.-31+4044A>G
NM_001322302.1:c.165+65577A>G	NP_001309231.1:n.165+65577A>G
NM_001322303.1:c.99+84733A>G	NP_001309232.1:n.99+84733A>G
NM_001322304.1:c.27+4036A>G	NP_001309233.1:n.27+4036A>G
NR_136288.1:n.224-46279A>G
NR_136289.1:n.359+4044A>G
NR_136290.1:n.359+4044A>G
NR_136291.1:n.495+4044A>G
NR_136292.1:n.429+4044A>G
NR_136293.1:n.599+4044A>G
NR_136294.1:n.429+4044A>G
NR_136295.1:n.294-26909A>G
NR_136296.1:n.429+4044A>G
NR_136297.1:n.294-46279A>G
NM_001322302.2:c.165+65577A>G	NP_001309231.1:n.165+65577A>G
NM_001322303.2:c.99+84733A>G	NP_001309232.1:n.99+84733A>G
NM_001322304.2:c.27+4036A>G	NP_001309233.1:n.27+4036A>G
NR_136291.2:n.541+4044A>G
NR_136292.2:n.475+4044A>G
NR_136293.2:n.645+4044A>G
NR_136294.2:n.475+4044A>G
NR_136295.2:n.340-26909A>G
NR_136296.2:n.475+4044A>G
NR_136297.2:n.340-46279A>G