Canonical Allele Identifier: CA349689790

Gene: CHN1

Linked Data

• dbSNP Id: rs1687624971
• gnomAD v4: 2-174878021-G-A
• MyVariant Identifiers: chr2:g.175742749G>A (hg19) ; chr2:g.174878021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878021G>A , CM000664.2:g.174878021G>A	GRCh38
NC_000002.11:g.175742749G>A , CM000664.1:g.175742749G>A	GRCh37
NC_000002.10:g.175450995G>A	NCBI36
NG_012642.1:g.132422C>T
NG_012642.2:g.132422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.368C>T MANE Select	ENSP00000386741.4:p.Thr123Ile
ENST00000425395.6:c.105-31064C>T	ENSP00000405270.2:n.105-31064C>T
ENST00000444573.2:c.212C>T	ENSP00000392603.2:p.Thr71Ile
ENST00000451799.2:c.212C>T	ENSP00000416316.2:p.Thr71Ile
ENST00000469597.2:c.*16C>T	ENSP00000498417.1:n.*16C>T
ENST00000488080.6:n.115-2156C>T
ENST00000650734.1:c.*268C>T	ENSP00000498742.1:n.*268C>T
ENST00000650770.1:c.*282C>T	ENSP00000499036.1:n.*282C>T
ENST00000651063.1:n.419C>T
ENST00000651246.1:c.-41C>T	ENSP00000498484.1:n.-41C>T
ENST00000651315.1:c.-41C>T	ENSP00000498692.1:n.-41C>T
ENST00000651373.1:c.-41C>T	ENSP00000499174.1:n.-41C>T
ENST00000651501.1:c.105-31064C>T	ENSP00000498894.1:n.105-31064C>T
ENST00000651580.1:c.212C>T	ENSP00000498631.1:p.Thr71Ile
ENST00000651599.1:c.212C>T	ENSP00000498535.1:p.Thr71Ile
ENST00000651803.1:c.*282C>T	ENSP00000499007.1:n.*282C>T
ENST00000651971.1:c.*168C>T	ENSP00000499035.1:n.*168C>T
ENST00000652154.1:n.344C>T
ENST00000652208.1:c.212C>T	ENSP00000498475.1:p.Thr71Ile
ENST00000652434.1:c.329C>T	ENSP00000498549.1:p.Thr110Ile
ENST00000652437.1:n.511C>T
ENST00000652674.1:c.-41C>T	ENSP00000498599.1:n.-41C>T
ENST00000652734.1:n.265C>T
ENST00000652756.1:c.212C>T	ENSP00000498281.1:p.Thr71Ile
ENST00000652768.1:n.260C>T
ENST00000409156.7:c.368C>T	ENSP00000386470.3:p.Thr123Ile
ENST00000409900.7:c.368C>T	ENSP00000386741.3:p.Thr123Ile
ENST00000425395.5:c.*101-31064C>T	ENSP00000405270.1:n.*101-31064C>T
ENST00000469597.1:n.473C>T
ENST00000488080.5:n.401-31064C>T
ENST00000490654.1:n.343C>T
NM_001025201.3:c.368C>T	NP_001020372.2:p.Thr123Ile
NM_001822.5:c.368C>T	NP_001813.1:p.Thr123Ile
NR_038133.1:n.416-31064C>T
NM_001025201.4:c.368C>T	NP_001020372.2:p.Thr123Ile
NM_001371513.1:c.368C>T	NP_001358442.1:p.Thr123Ile
NM_001371514.1:c.419C>T	NP_001358443.1:p.Thr140Ile
NM_001822.7:c.368C>T MANE Select	NP_001813.1:p.Thr123Ile
NR_038133.2:n.418-31064C>T