Canonical Allele Identifier: CA349342610

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664992T>A (hg19) ; chr2:g.174800264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800264T>A , CM000664.2:g.174800264T>A	GRCh38
NC_000002.11:g.175664992T>A , CM000664.1:g.175664992T>A	GRCh37
NC_000002.10:g.175373238T>A	NCBI36
NG_012642.1:g.210179A>T
NG_012642.2:g.210179A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.857A>T	ENSP00000295497.7:p.Asn286Ile
ENST00000295497.12:c.857A>T	ENSP00000295497.7:p.Asn286Ile
ENST00000409089.7:c.608A>T	ENSP00000386322.3:p.Asn203Ile
ENST00000409900.9:c.1232A>T MANE Select	ENSP00000386741.4:p.Asn411Ile
ENST00000413882.6:c.686A>T	ENSP00000410496.2:p.Asn229Ile
ENST00000443238.6:c.710A>T	ENSP00000409798.2:p.Asn237Ile
ENST00000488080.6:n.875A>T
ENST00000650731.1:c.557A>T	ENSP00000499146.1:p.Asn186Ile
ENST00000650938.1:c.618A>T
ENST00000651246.1:c.824A>T	ENSP00000498484.1:p.Asn275Ile
ENST00000651501.1:c.*679A>T	ENSP00000498894.1:n.*679A>T
ENST00000651717.1:c.*508A>T	ENSP00000499124.1:n.*508A>T
ENST00000652036.1:c.908A>T	ENSP00000499139.1:p.Asn303Ile
ENST00000295497.11:c.857A>T	ENSP00000295497.7:p.Asn286Ile
ENST00000409156.7:c.1154A>T	ENSP00000386470.3:p.Asn385Ile
ENST00000409597.5:c.680A>T	ENSP00000386469.1:p.Asn227Ile
ENST00000409900.7:c.1232A>T	ENSP00000386741.3:p.Asn411Ile
ENST00000488080.5:n.1083A>T
ENST00000492964.1:n.375A>T
NM_001025201.3:c.1154A>T	NP_001020372.2:p.Asn385Ile
NM_001206602.1:c.857A>T	NP_001193531.1:p.Asn286Ile
NM_001822.5:c.1232A>T	NP_001813.1:p.Asn411Ile
NR_038133.1:n.1098A>T
NM_001025201.4:c.1154A>T	NP_001020372.2:p.Asn385Ile
NM_001206602.2:c.857A>T	NP_001193531.1:p.Asn286Ile
NM_001371513.1:c.1232A>T	NP_001358442.1:p.Asn411Ile
NM_001371514.1:c.1283A>T	NP_001358443.1:p.Asn428Ile
NM_001822.7:c.1232A>T MANE Select	NP_001813.1:p.Asn411Ile
NR_038133.2:n.1100A>T