Canonical Allele Identifier: CA349342253

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664929A>T (hg19) ; chr2:g.174800201A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800201A>T , CM000664.2:g.174800201A>T	GRCh38
NC_000002.11:g.175664929A>T , CM000664.1:g.175664929A>T	GRCh37
NC_000002.10:g.175373175A>T	NCBI36
NG_012642.1:g.210242T>A
NG_012642.2:g.210242T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.920T>A	ENSP00000295497.7:p.Leu307Gln
ENST00000295497.12:c.920T>A	ENSP00000295497.7:p.Leu307Gln
ENST00000409900.9:c.1295T>A MANE Select	ENSP00000386741.4:p.Leu432Gln
ENST00000413882.6:c.749T>A	ENSP00000410496.2:p.Leu250Gln
ENST00000443238.6:c.773T>A	ENSP00000409798.2:p.Leu258Gln
ENST00000488080.6:n.938T>A
ENST00000650731.1:c.620T>A	ENSP00000499146.1:p.Leu207Gln
ENST00000650938.1:c.681T>A
ENST00000651246.1:c.887T>A	ENSP00000498484.1:p.Leu296Gln
ENST00000651501.1:c.*742T>A	ENSP00000498894.1:n.*742T>A
ENST00000651717.1:c.*571T>A	ENSP00000499124.1:n.*571T>A
ENST00000652036.1:c.971T>A	ENSP00000499139.1:p.Leu324Gln
ENST00000295497.11:c.920T>A	ENSP00000295497.7:p.Leu307Gln
ENST00000409156.7:c.1217T>A	ENSP00000386470.3:p.Leu406Gln
ENST00000409597.5:c.743T>A	ENSP00000386469.1:p.Leu248Gln
ENST00000409900.7:c.1295T>A	ENSP00000386741.3:p.Leu432Gln
ENST00000488080.5:n.1146T>A
ENST00000492964.1:n.438T>A
NM_001025201.3:c.1217T>A	NP_001020372.2:p.Leu406Gln
NM_001206602.1:c.920T>A	NP_001193531.1:p.Leu307Gln
NM_001822.5:c.1295T>A	NP_001813.1:p.Leu432Gln
NR_038133.1:n.1161T>A
NM_001025201.4:c.1217T>A	NP_001020372.2:p.Leu406Gln
NM_001206602.2:c.920T>A	NP_001193531.1:p.Leu307Gln
NM_001371513.1:c.1295T>A	NP_001358442.1:p.Leu432Gln
NM_001371514.1:c.1346T>A	NP_001358443.1:p.Leu449Gln
NM_001822.7:c.1295T>A MANE Select	NP_001813.1:p.Leu432Gln
NR_038133.2:n.1163T>A