Canonical Allele Identifier: CA349341906

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664863T>A (hg19) ; chr2:g.174800135T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800135T>A , CM000664.2:g.174800135T>A	GRCh38
NC_000002.11:g.175664863T>A , CM000664.1:g.175664863T>A	GRCh37
NC_000002.10:g.175373109T>A	NCBI36
NG_012642.1:g.210308A>T
NG_012642.2:g.210308A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.986A>T	ENSP00000295497.7:p.Asn329Ile
ENST00000295497.12:c.986A>T	ENSP00000295497.7:p.Asn329Ile
ENST00000409900.9:c.1361A>T MANE Select	ENSP00000386741.4:p.Asn454Ile
ENST00000413882.6:c.815A>T	ENSP00000410496.2:p.Asn272Ile
ENST00000443238.6:c.839A>T	ENSP00000409798.2:p.Asn280Ile
ENST00000488080.6:n.1004A>T
ENST00000650731.1:c.686A>T	ENSP00000499146.1:p.Asn229Ile
ENST00000650938.1:c.747A>T
ENST00000651246.1:c.953A>T	ENSP00000498484.1:p.Asn318Ile
ENST00000651501.1:c.*808A>T	ENSP00000498894.1:n.*808A>T
ENST00000651717.1:c.*637A>T	ENSP00000499124.1:n.*637A>T
ENST00000652036.1:c.1037A>T	ENSP00000499139.1:p.Asn346Ile
ENST00000295497.11:c.986A>T	ENSP00000295497.7:p.Asn329Ile
ENST00000409156.7:c.1283A>T	ENSP00000386470.3:p.Asn428Ile
ENST00000409597.5:c.809A>T	ENSP00000386469.1:p.Asn270Ile
ENST00000409900.7:c.1361A>T	ENSP00000386741.3:p.Asn454Ile
ENST00000488080.5:n.1212A>T
ENST00000492964.1:n.504A>T
NM_001025201.3:c.1283A>T	NP_001020372.2:p.Asn428Ile
NM_001206602.1:c.986A>T	NP_001193531.1:p.Asn329Ile
NM_001822.5:c.1361A>T	NP_001813.1:p.Asn454Ile
NR_038133.1:n.1227A>T
NM_001025201.4:c.1283A>T	NP_001020372.2:p.Asn428Ile
NM_001206602.2:c.986A>T	NP_001193531.1:p.Asn329Ile
NM_001371513.1:c.1361A>T	NP_001358442.1:p.Asn454Ile
NM_001371514.1:c.1412A>T	NP_001358443.1:p.Asn471Ile
NM_001822.7:c.1361A>T MANE Select	NP_001813.1:p.Asn454Ile
NR_038133.2:n.1229A>T