Canonical Allele Identifier: CA349347866

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824490-C-A
• MyVariant Identifiers: chr2:g.175689218C>A (hg19) ; chr2:g.174824490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824490C>A , CM000664.2:g.174824490C>A	GRCh38
NC_000002.11:g.175689218C>A , CM000664.1:g.175689218C>A	GRCh37
NC_000002.10:g.175397464C>A	NCBI36
NG_012642.1:g.185953G>T
NG_012642.2:g.185953G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.281G>T	ENSP00000295497.7:p.Cys94Phe
ENST00000444394.7:c.281G>T	ENSP00000411911.2:p.Cys94Phe
ENST00000295497.12:c.281G>T	ENSP00000295497.7:p.Cys94Phe
ENST00000409089.7:c.-20G>T	ENSP00000386322.3:n.-20G>T
ENST00000409900.9:c.656G>T MANE Select	ENSP00000386741.4:p.Cys219Phe
ENST00000413882.6:c.110G>T	ENSP00000410496.2:p.Cys37Phe
ENST00000425395.6:c.*103G>T	ENSP00000405270.2:n.*103G>T
ENST00000443238.6:c.134G>T	ENSP00000409798.2:p.Cys45Phe
ENST00000444394.6:c.281G>T	ENSP00000411911.2:p.Cys94Phe
ENST00000444573.2:c.500G>T	ENSP00000392603.2:p.Cys167Phe
ENST00000488080.6:n.299G>T
ENST00000650731.1:c.-20G>T	ENSP00000499146.1:n.-20G>T
ENST00000650938.1:c.180G>T
ENST00000651246.1:c.248G>T	ENSP00000498484.1:p.Cys83Phe
ENST00000651373.1:c.170G>T	ENSP00000499174.1:p.Cys57Phe
ENST00000651501.1:c.*103G>T	ENSP00000498894.1:n.*103G>T
ENST00000651717.1:c.253-12008G>T	ENSP00000499124.1:n.253-12008G>T
ENST00000652036.1:c.281G>T	ENSP00000499139.1:p.Cys94Phe
ENST00000652154.1:n.554G>T
ENST00000295497.11:c.281G>T	ENSP00000295497.7:p.Cys94Phe
ENST00000409089.6:c.-20G>T	ENSP00000386322.2:n.-20G>T
ENST00000409156.7:c.578G>T	ENSP00000386470.3:p.Cys193Phe
ENST00000409597.5:c.104G>T	ENSP00000386469.1:p.Cys35Phe
ENST00000409900.7:c.656G>T	ENSP00000386741.3:p.Cys219Phe
ENST00000413882.5:c.110G>T	ENSP00000410496.1:p.Cys37Phe
ENST00000425395.5:c.*207G>T	ENSP00000405270.1:n.*207G>T
ENST00000443238.5:c.134G>T	ENSP00000409798.1:p.Cys45Phe
ENST00000444394.5:c.-20G>T	ENSP00000411911.1:n.-20G>T
ENST00000444573.1:c.281G>T	ENSP00000392603.1:p.Cys94Phe
ENST00000485882.1:n.115G>T
ENST00000488080.5:n.507G>T
NM_001025201.3:c.578G>T	NP_001020372.2:p.Cys193Phe
NM_001206602.1:c.281G>T	NP_001193531.1:p.Cys94Phe
NM_001822.5:c.656G>T	NP_001813.1:p.Cys219Phe
NR_038133.1:n.522G>T
NM_001025201.4:c.578G>T	NP_001020372.2:p.Cys193Phe
NM_001206602.2:c.281G>T	NP_001193531.1:p.Cys94Phe
NM_001371513.1:c.656G>T	NP_001358442.1:p.Cys219Phe
NM_001371514.1:c.707G>T	NP_001358443.1:p.Cys236Phe
NM_001822.7:c.656G>T MANE Select	NP_001813.1:p.Cys219Phe
NR_038133.2:n.524G>T