Canonical Allele Identifier: CA349689780

Gene: CHN1

Linked Data

• dbSNP Id: rs1359296855
• gnomAD v2: 2-175742743-T-C
• gnomAD v4: 2-174878015-T-C
• MyVariant Identifiers: chr2:g.175742743T>C (hg19) ; chr2:g.174878015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878015T>C , CM000664.2:g.174878015T>C	GRCh38
NC_000002.11:g.175742743T>C , CM000664.1:g.175742743T>C	GRCh37
NC_000002.10:g.175450989T>C	NCBI36
NG_012642.1:g.132428A>G
NG_012642.2:g.132428A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.374A>G MANE Select	ENSP00000386741.4:p.Tyr125Cys
ENST00000425395.6:c.105-31058A>G	ENSP00000405270.2:n.105-31058A>G
ENST00000444573.2:c.218A>G	ENSP00000392603.2:p.Tyr73Cys
ENST00000451799.2:c.218A>G	ENSP00000416316.2:p.Tyr73Cys
ENST00000469597.2:c.*22A>G	ENSP00000498417.1:n.*22A>G
ENST00000488080.6:n.115-2150A>G
ENST00000650734.1:c.*274A>G	ENSP00000498742.1:n.*274A>G
ENST00000650770.1:c.*288A>G	ENSP00000499036.1:n.*288A>G
ENST00000651063.1:n.425A>G
ENST00000651246.1:c.-35A>G	ENSP00000498484.1:n.-35A>G
ENST00000651315.1:c.-35A>G	ENSP00000498692.1:n.-35A>G
ENST00000651373.1:c.-35A>G	ENSP00000499174.1:n.-35A>G
ENST00000651501.1:c.105-31058A>G	ENSP00000498894.1:n.105-31058A>G
ENST00000651580.1:c.218A>G	ENSP00000498631.1:p.Tyr73Cys
ENST00000651599.1:c.218A>G	ENSP00000498535.1:p.Tyr73Cys
ENST00000651803.1:c.*288A>G	ENSP00000499007.1:n.*288A>G
ENST00000651971.1:c.*174A>G	ENSP00000499035.1:n.*174A>G
ENST00000652154.1:n.350A>G
ENST00000652208.1:c.218A>G	ENSP00000498475.1:p.Tyr73Cys
ENST00000652434.1:c.335A>G	ENSP00000498549.1:p.Tyr112Cys
ENST00000652437.1:n.517A>G
ENST00000652674.1:c.-35A>G	ENSP00000498599.1:n.-35A>G
ENST00000652734.1:n.271A>G
ENST00000652756.1:c.218A>G	ENSP00000498281.1:p.Tyr73Cys
ENST00000652768.1:n.266A>G
ENST00000409156.7:c.374A>G	ENSP00000386470.3:p.Tyr125Cys
ENST00000409900.7:c.374A>G	ENSP00000386741.3:p.Tyr125Cys
ENST00000425395.5:c.*101-31058A>G	ENSP00000405270.1:n.*101-31058A>G
ENST00000469597.1:n.479A>G
ENST00000488080.5:n.401-31058A>G
ENST00000490654.1:n.349A>G
NM_001025201.3:c.374A>G	NP_001020372.2:p.Tyr125Cys
NM_001822.5:c.374A>G	NP_001813.1:p.Tyr125Cys
NR_038133.1:n.416-31058A>G
NM_001025201.4:c.374A>G	NP_001020372.2:p.Tyr125Cys
NM_001371513.1:c.374A>G	NP_001358442.1:p.Tyr125Cys
NM_001371514.1:c.425A>G	NP_001358443.1:p.Tyr142Cys
NM_001822.7:c.374A>G MANE Select	NP_001813.1:p.Tyr125Cys
NR_038133.2:n.418-31058A>G