Canonical Allele Identifier: CA349347970

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824515-G-T
• MyVariant Identifiers: chr2:g.175689243G>T (hg19) ; chr2:g.174824515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824515G>T , CM000664.2:g.174824515G>T	GRCh38
NC_000002.11:g.175689243G>T , CM000664.1:g.175689243G>T	GRCh37
NC_000002.10:g.175397489G>T	NCBI36
NG_012642.1:g.185928C>A
NG_012642.2:g.185928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.256C>A	ENSP00000295497.7:p.His86Asn
ENST00000444394.7:c.256C>A	ENSP00000411911.2:p.His86Asn
ENST00000295497.12:c.256C>A	ENSP00000295497.7:p.His86Asn
ENST00000409089.7:c.-45C>A	ENSP00000386322.3:n.-45C>A
ENST00000409900.9:c.631C>A MANE Select	ENSP00000386741.4:p.His211Asn
ENST00000413882.6:c.85C>A	ENSP00000410496.2:p.His29Asn
ENST00000425395.6:c.*78C>A	ENSP00000405270.2:n.*78C>A
ENST00000443238.6:c.109C>A	ENSP00000409798.2:p.His37Asn
ENST00000444394.6:c.256C>A	ENSP00000411911.2:p.His86Asn
ENST00000444573.2:c.475C>A	ENSP00000392603.2:p.His159Asn
ENST00000451799.2:c.475C>A	ENSP00000416316.2:p.His159Asn
ENST00000469597.2:c.*279C>A	ENSP00000498417.1:n.*279C>A
ENST00000488080.6:n.274C>A
ENST00000650731.1:c.-45C>A	ENSP00000499146.1:n.-45C>A
ENST00000650734.1:c.*531C>A	ENSP00000498742.1:n.*531C>A
ENST00000650770.1:c.*545C>A	ENSP00000499036.1:n.*545C>A
ENST00000650938.1:c.155C>A
ENST00000651246.1:c.223C>A	ENSP00000498484.1:p.His75Asn
ENST00000651315.1:c.223C>A	ENSP00000498692.1:p.His75Asn
ENST00000651373.1:c.145C>A	ENSP00000499174.1:p.His49Asn
ENST00000651501.1:c.*78C>A	ENSP00000498894.1:n.*78C>A
ENST00000651580.1:c.*210C>A	ENSP00000498631.1:n.*210C>A
ENST00000651599.1:c.*115C>A	ENSP00000498535.1:n.*115C>A
ENST00000651717.1:c.253-12033C>A	ENSP00000499124.1:n.253-12033C>A
ENST00000651803.1:c.*623C>A	ENSP00000499007.1:n.*623C>A
ENST00000651971.1:c.*431C>A	ENSP00000499035.1:n.*431C>A
ENST00000652036.1:c.256C>A	ENSP00000499139.1:p.His86Asn
ENST00000652154.1:n.529C>A
ENST00000652208.1:c.475C>A	ENSP00000498475.1:p.His159Asn
ENST00000652434.1:c.592C>A	ENSP00000498549.1:p.His198Asn
ENST00000652437.1:n.774C>A
ENST00000652674.1:c.*115C>A	ENSP00000498599.1:n.*115C>A
ENST00000652734.1:n.528C>A
ENST00000652756.1:c.475C>A	ENSP00000498281.1:p.His159Asn
ENST00000652768.1:n.523C>A
ENST00000295497.11:c.256C>A	ENSP00000295497.7:p.His86Asn
ENST00000409089.6:c.-45C>A	ENSP00000386322.2:n.-45C>A
ENST00000409156.7:c.553C>A	ENSP00000386470.3:p.His185Asn
ENST00000409597.5:c.79C>A	ENSP00000386469.1:p.His27Asn
ENST00000409900.7:c.631C>A	ENSP00000386741.3:p.His211Asn
ENST00000413882.5:c.85C>A	ENSP00000410496.1:p.His29Asn
ENST00000425395.5:c.*182C>A	ENSP00000405270.1:n.*182C>A
ENST00000443238.5:c.109C>A	ENSP00000409798.1:p.His37Asn
ENST00000444394.5:c.-45C>A	ENSP00000411911.1:n.-45C>A
ENST00000444573.1:c.256C>A	ENSP00000392603.1:p.His86Asn
ENST00000485882.1:n.90C>A
ENST00000488080.5:n.482C>A
NM_001025201.3:c.553C>A	NP_001020372.2:p.His185Asn
NM_001206602.1:c.256C>A	NP_001193531.1:p.His86Asn
NM_001822.5:c.631C>A	NP_001813.1:p.His211Asn
NR_038133.1:n.497C>A
NM_001025201.4:c.553C>A	NP_001020372.2:p.His185Asn
NM_001206602.2:c.256C>A	NP_001193531.1:p.His86Asn
NM_001371513.1:c.631C>A	NP_001358442.1:p.His211Asn
NM_001371514.1:c.682C>A	NP_001358443.1:p.His228Asn
NM_001822.7:c.631C>A MANE Select	NP_001813.1:p.His211Asn
NR_038133.2:n.499C>A