Canonical Allele Identifier: CA349347913

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824500-G-T
• MyVariant Identifiers: chr2:g.175689228G>T (hg19) ; chr2:g.174824500G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824500G>T , CM000664.2:g.174824500G>T	GRCh38
NC_000002.11:g.175689228G>T , CM000664.1:g.175689228G>T	GRCh37
NC_000002.10:g.175397474G>T	NCBI36
NG_012642.1:g.185943C>A
NG_012642.2:g.185943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.271C>A	ENSP00000295497.7:p.Pro91Thr
ENST00000444394.7:c.271C>A	ENSP00000411911.2:p.Pro91Thr
ENST00000295497.12:c.271C>A	ENSP00000295497.7:p.Pro91Thr
ENST00000409089.7:c.-30C>A	ENSP00000386322.3:n.-30C>A
ENST00000409900.9:c.646C>A MANE Select	ENSP00000386741.4:p.Pro216Thr
ENST00000413882.6:c.100C>A	ENSP00000410496.2:p.Pro34Thr
ENST00000425395.6:c.*93C>A	ENSP00000405270.2:n.*93C>A
ENST00000443238.6:c.124C>A	ENSP00000409798.2:p.Pro42Thr
ENST00000444394.6:c.271C>A	ENSP00000411911.2:p.Pro91Thr
ENST00000444573.2:c.490C>A	ENSP00000392603.2:p.Pro164Thr
ENST00000451799.2:c.490C>A	ENSP00000416316.2:p.Pro164Thr
ENST00000469597.2:c.*294C>A	ENSP00000498417.1:n.*294C>A
ENST00000488080.6:n.289C>A
ENST00000650731.1:c.-30C>A	ENSP00000499146.1:n.-30C>A
ENST00000650734.1:c.*546C>A	ENSP00000498742.1:n.*546C>A
ENST00000650770.1:c.*560C>A	ENSP00000499036.1:n.*560C>A
ENST00000650938.1:c.170C>A
ENST00000651246.1:c.238C>A	ENSP00000498484.1:p.Pro80Thr
ENST00000651315.1:c.238C>A	ENSP00000498692.1:p.Pro80Thr
ENST00000651373.1:c.160C>A	ENSP00000499174.1:p.Pro54Thr
ENST00000651501.1:c.*93C>A	ENSP00000498894.1:n.*93C>A
ENST00000651580.1:c.*225C>A	ENSP00000498631.1:n.*225C>A
ENST00000651599.1:c.*130C>A	ENSP00000498535.1:n.*130C>A
ENST00000651717.1:c.253-12018C>A	ENSP00000499124.1:n.253-12018C>A
ENST00000651803.1:c.*638C>A	ENSP00000499007.1:n.*638C>A
ENST00000651971.1:c.*446C>A	ENSP00000499035.1:n.*446C>A
ENST00000652036.1:c.271C>A	ENSP00000499139.1:p.Pro91Thr
ENST00000652154.1:n.544C>A
ENST00000652208.1:c.490C>A	ENSP00000498475.1:p.Pro164Thr
ENST00000652434.1:c.607C>A	ENSP00000498549.1:p.Pro203Thr
ENST00000652437.1:n.789C>A
ENST00000652674.1:c.*130C>A	ENSP00000498599.1:n.*130C>A
ENST00000652734.1:n.543C>A
ENST00000652756.1:c.490C>A	ENSP00000498281.1:p.Pro164Thr
ENST00000652768.1:n.538C>A
ENST00000295497.11:c.271C>A	ENSP00000295497.7:p.Pro91Thr
ENST00000409089.6:c.-30C>A	ENSP00000386322.2:n.-30C>A
ENST00000409156.7:c.568C>A	ENSP00000386470.3:p.Pro190Thr
ENST00000409597.5:c.94C>A	ENSP00000386469.1:p.Pro32Thr
ENST00000409900.7:c.646C>A	ENSP00000386741.3:p.Pro216Thr
ENST00000413882.5:c.100C>A	ENSP00000410496.1:p.Pro34Thr
ENST00000425395.5:c.*197C>A	ENSP00000405270.1:n.*197C>A
ENST00000443238.5:c.124C>A	ENSP00000409798.1:p.Pro42Thr
ENST00000444394.5:c.-30C>A	ENSP00000411911.1:n.-30C>A
ENST00000444573.1:c.271C>A	ENSP00000392603.1:p.Pro91Thr
ENST00000485882.1:n.105C>A
ENST00000488080.5:n.497C>A
NM_001025201.3:c.568C>A	NP_001020372.2:p.Pro190Thr
NM_001206602.1:c.271C>A	NP_001193531.1:p.Pro91Thr
NM_001822.5:c.646C>A	NP_001813.1:p.Pro216Thr
NR_038133.1:n.512C>A
NM_001025201.4:c.568C>A	NP_001020372.2:p.Pro190Thr
NM_001206602.2:c.271C>A	NP_001193531.1:p.Pro91Thr
NM_001371513.1:c.646C>A	NP_001358442.1:p.Pro216Thr
NM_001371514.1:c.697C>A	NP_001358443.1:p.Pro233Thr
NM_001822.7:c.646C>A MANE Select	NP_001813.1:p.Pro216Thr
NR_038133.2:n.514C>A