Canonical Allele Identifier: CA1974794

Gene: CHN1

Linked Data

• dbSNP Id: rs531557075
• ExAC: 2:175665010 G / T
• gnomAD v2: 2-175665010-G-T
• gnomAD v3: 2-174800282-G-T
• gnomAD v4: 2-174800282-G-T
• MyVariant Identifiers: chr2:g.175665010G>T (hg19) ; chr2:g.174800282G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800282G>T , CM000664.2:g.174800282G>T	GRCh38
NC_000002.11:g.175665010G>T , CM000664.1:g.175665010G>T	GRCh37
NC_000002.10:g.175373256G>T	NCBI36
NG_012642.1:g.210161C>A
NG_012642.2:g.210161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.839C>A	ENSP00000295497.7:p.Thr280Asn
ENST00000295497.12:c.839C>A	ENSP00000295497.7:p.Thr280Asn
ENST00000409089.7:c.590C>A	ENSP00000386322.3:p.Thr197Asn
ENST00000409900.9:c.1214C>A MANE Select	ENSP00000386741.4:p.Thr405Asn
ENST00000413882.6:c.668C>A	ENSP00000410496.2:p.Thr223Asn
ENST00000443238.6:c.692C>A	ENSP00000409798.2:p.Thr231Asn
ENST00000488080.6:n.857C>A
ENST00000650731.1:c.539C>A	ENSP00000499146.1:p.Thr180Asn
ENST00000650938.1:c.600C>A
ENST00000651246.1:c.806C>A	ENSP00000498484.1:p.Thr269Asn
ENST00000651501.1:c.*661C>A	ENSP00000498894.1:n.*661C>A
ENST00000651717.1:c.*490C>A	ENSP00000499124.1:n.*490C>A
ENST00000652036.1:c.890C>A	ENSP00000499139.1:p.Thr297Asn
ENST00000295497.11:c.839C>A	ENSP00000295497.7:p.Thr280Asn
ENST00000409156.7:c.1136C>A	ENSP00000386470.3:p.Thr379Asn
ENST00000409597.5:c.662C>A	ENSP00000386469.1:p.Thr221Asn
ENST00000409900.7:c.1214C>A	ENSP00000386741.3:p.Thr405Asn
ENST00000488080.5:n.1065C>A
ENST00000492964.1:n.357C>A
NM_001025201.3:c.1136C>A	NP_001020372.2:p.Thr379Asn
NM_001206602.1:c.839C>A	NP_001193531.1:p.Thr280Asn
NM_001822.5:c.1214C>A	NP_001813.1:p.Thr405Asn
NR_038133.1:n.1080C>A
NM_001025201.4:c.1136C>A	NP_001020372.2:p.Thr379Asn
NM_001206602.2:c.839C>A	NP_001193531.1:p.Thr280Asn
NM_001371513.1:c.1214C>A	NP_001358442.1:p.Thr405Asn
NM_001371514.1:c.1265C>A	NP_001358443.1:p.Thr422Asn
NM_001822.7:c.1214C>A MANE Select	NP_001813.1:p.Thr405Asn
NR_038133.2:n.1082C>A