Canonical Allele Identifier: CA349347678

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824441-T-A
• MyVariant Identifiers: chr2:g.175689169T>A (hg19) ; chr2:g.174824441T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824441T>A , CM000664.2:g.174824441T>A	GRCh38
NC_000002.11:g.175689169T>A , CM000664.1:g.175689169T>A	GRCh37
NC_000002.10:g.175397415T>A	NCBI36
NG_012642.1:g.186002A>T
NG_012642.2:g.186002A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.330A>T	ENSP00000295497.7:p.Lys110Asn
ENST00000444394.7:c.330A>T	ENSP00000411911.2:p.Lys110Asn
ENST00000295497.12:c.330A>T	ENSP00000295497.7:p.Lys110Asn
ENST00000409089.7:c.30A>T	ENSP00000386322.3:p.Lys10Asn
ENST00000409900.9:c.705A>T MANE Select	ENSP00000386741.4:p.Lys235Asn
ENST00000413882.6:c.159A>T	ENSP00000410496.2:p.Lys53Asn
ENST00000425395.6:c.*152A>T	ENSP00000405270.2:n.*152A>T
ENST00000443238.6:c.183A>T	ENSP00000409798.2:p.Lys61Asn
ENST00000444394.6:c.330A>T	ENSP00000411911.2:p.Lys110Asn
ENST00000444573.2:c.549A>T	ENSP00000392603.2:p.Lys183Asn
ENST00000488080.6:n.348A>T
ENST00000650731.1:c.30A>T	ENSP00000499146.1:p.Lys10Asn
ENST00000650938.1:c.229A>T
ENST00000651246.1:c.297A>T	ENSP00000498484.1:p.Lys99Asn
ENST00000651373.1:c.219A>T	ENSP00000499174.1:p.Lys73Asn
ENST00000651501.1:c.*152A>T	ENSP00000498894.1:n.*152A>T
ENST00000651717.1:c.253-11959A>T	ENSP00000499124.1:n.253-11959A>T
ENST00000652036.1:c.330A>T	ENSP00000499139.1:p.Lys110Asn
ENST00000652154.1:n.603A>T
ENST00000295497.11:c.330A>T	ENSP00000295497.7:p.Lys110Asn
ENST00000409089.6:c.30A>T	ENSP00000386322.2:p.Lys10Asn
ENST00000409156.7:c.627A>T	ENSP00000386470.3:p.Lys209Asn
ENST00000409597.5:c.153A>T	ENSP00000386469.1:p.Lys51Asn
ENST00000409900.7:c.705A>T	ENSP00000386741.3:p.Lys235Asn
ENST00000413882.5:c.159A>T	ENSP00000410496.1:p.Lys53Asn
ENST00000425395.5:c.*256A>T	ENSP00000405270.1:n.*256A>T
ENST00000443238.5:c.183A>T	ENSP00000409798.1:p.Lys61Asn
ENST00000444394.5:c.30A>T	ENSP00000411911.1:p.Lys10Asn
ENST00000444573.1:c.330A>T	ENSP00000392603.1:p.Lys110Asn
ENST00000485882.1:n.164A>T
ENST00000488080.5:n.556A>T
NM_001025201.3:c.627A>T	NP_001020372.2:p.Lys209Asn
NM_001206602.1:c.330A>T	NP_001193531.1:p.Lys110Asn
NM_001822.5:c.705A>T	NP_001813.1:p.Lys235Asn
NR_038133.1:n.571A>T
NM_001025201.4:c.627A>T	NP_001020372.2:p.Lys209Asn
NM_001206602.2:c.330A>T	NP_001193531.1:p.Lys110Asn
NM_001371513.1:c.705A>T	NP_001358442.1:p.Lys235Asn
NM_001371514.1:c.756A>T	NP_001358443.1:p.Lys252Asn
NM_001822.7:c.705A>T MANE Select	NP_001813.1:p.Lys235Asn
NR_038133.2:n.573A>T