Canonical Allele Identifier: CA349347885

Gene: CHN1

Linked Data

• dbSNP Id: rs1685615415
• MyVariant Identifiers: chr2:g.175689221C>T (hg19) ; chr2:g.174824493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824493C>T , CM000664.2:g.174824493C>T	GRCh38
NC_000002.11:g.175689221C>T , CM000664.1:g.175689221C>T	GRCh37
NC_000002.10:g.175397467C>T	NCBI36
NG_012642.1:g.185950G>A
NG_012642.2:g.185950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.278G>A	ENSP00000295497.7:p.Trp93Ter
ENST00000444394.7:c.278G>A	ENSP00000411911.2:p.Trp93Ter
ENST00000295497.12:c.278G>A	ENSP00000295497.7:p.Trp93Ter
ENST00000409089.7:c.-23G>A	ENSP00000386322.3:n.-23G>A
ENST00000409900.9:c.653G>A MANE Select	ENSP00000386741.4:p.Trp218Ter
ENST00000413882.6:c.107G>A	ENSP00000410496.2:p.Trp36Ter
ENST00000425395.6:c.*100G>A	ENSP00000405270.2:n.*100G>A
ENST00000443238.6:c.131G>A	ENSP00000409798.2:p.Trp44Ter
ENST00000444394.6:c.278G>A	ENSP00000411911.2:p.Trp93Ter
ENST00000444573.2:c.497G>A	ENSP00000392603.2:p.Trp166Ter
ENST00000451799.2:c.497G>A
ENST00000469597.2:c.*301G>A	ENSP00000498417.1:n.*301G>A
ENST00000488080.6:n.296G>A
ENST00000650731.1:c.-23G>A	ENSP00000499146.1:n.-23G>A
ENST00000650734.1:c.*553G>A	ENSP00000498742.1:n.*553G>A
ENST00000650770.1:c.*567G>A	ENSP00000499036.1:n.*567G>A
ENST00000650938.1:c.177G>A
ENST00000651246.1:c.245G>A	ENSP00000498484.1:p.Trp82Ter
ENST00000651315.1:c.245G>A
ENST00000651373.1:c.167G>A	ENSP00000499174.1:p.Trp56Ter
ENST00000651501.1:c.*100G>A	ENSP00000498894.1:n.*100G>A
ENST00000651580.1:c.*232G>A	ENSP00000498631.1:n.*232G>A
ENST00000651717.1:c.253-12011G>A	ENSP00000499124.1:n.253-12011G>A
ENST00000651971.1:c.*453G>A	ENSP00000499035.1:n.*453G>A
ENST00000652036.1:c.278G>A	ENSP00000499139.1:p.Trp93Ter
ENST00000652154.1:n.551G>A
ENST00000652208.1:c.497G>A
ENST00000652437.1:n.796G>A
ENST00000652674.1:c.*137G>A	ENSP00000498599.1:n.*137G>A
ENST00000652734.1:n.550G>A
ENST00000652756.1:c.497G>A
ENST00000652768.1:n.545G>A
ENST00000295497.11:c.278G>A	ENSP00000295497.7:p.Trp93Ter
ENST00000409089.6:c.-23G>A	ENSP00000386322.2:n.-23G>A
ENST00000409156.7:c.575G>A	ENSP00000386470.3:p.Trp192Ter
ENST00000409597.5:c.101G>A	ENSP00000386469.1:p.Trp34Ter
ENST00000409900.7:c.653G>A	ENSP00000386741.3:p.Trp218Ter
ENST00000413882.5:c.107G>A	ENSP00000410496.1:p.Trp36Ter
ENST00000425395.5:c.*204G>A	ENSP00000405270.1:n.*204G>A
ENST00000443238.5:c.131G>A	ENSP00000409798.1:p.Trp44Ter
ENST00000444394.5:c.-23G>A	ENSP00000411911.1:n.-23G>A
ENST00000444573.1:c.278G>A	ENSP00000392603.1:p.Trp93Ter
ENST00000485882.1:n.112G>A
ENST00000488080.5:n.504G>A
NM_001025201.3:c.575G>A	NP_001020372.2:p.Trp192Ter
NM_001206602.1:c.278G>A	NP_001193531.1:p.Trp93Ter
NM_001822.5:c.653G>A	NP_001813.1:p.Trp218Ter
NR_038133.1:n.519G>A
NM_001025201.4:c.575G>A	NP_001020372.2:p.Trp192Ter
NM_001206602.2:c.278G>A	NP_001193531.1:p.Trp93Ter
NM_001371513.1:c.653G>A	NP_001358442.1:p.Trp218Ter
NM_001371514.1:c.704G>A	NP_001358443.1:p.Trp235Ter
NM_001822.7:c.653G>A MANE Select	NP_001813.1:p.Trp218Ter
NR_038133.2:n.521G>A