Canonical Allele Identifier: CA430022757

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824477-G-T
• MyVariant Identifiers: chr2:g.175689205G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824477G>T , CM000664.2:g.174824477G>T	GRCh38
NC_000002.11:g.175689205G>T , CM000664.1:g.175689205G>T	GRCh37
NC_000002.10:g.175397451G>T	NCBI36
NG_012642.1:g.185966C>A
NG_012642.2:g.185966C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.294C>A	ENSP00000295497.7:p.Ala98=
ENST00000444394.7:c.294C>A	ENSP00000411911.2:p.Ala98=
ENST00000295497.12:c.294C>A	ENSP00000295497.7:p.Ala98=
ENST00000409089.7:c.-7C>A	ENSP00000386322.3:n.-7C>A
ENST00000409900.9:c.669C>A MANE Select	ENSP00000386741.4:p.Ala223=
ENST00000413882.6:c.123C>A	ENSP00000410496.2:p.Ala41=
ENST00000425395.6:c.*116C>A	ENSP00000405270.2:n.*116C>A
ENST00000443238.6:c.147C>A	ENSP00000409798.2:p.Ala49=
ENST00000444394.6:c.294C>A	ENSP00000411911.2:p.Ala98=
ENST00000444573.2:c.513C>A	ENSP00000392603.2:p.Ala171=
ENST00000488080.6:n.312C>A
ENST00000650731.1:c.-7C>A	ENSP00000499146.1:n.-7C>A
ENST00000650938.1:c.193C>A
ENST00000651246.1:c.261C>A	ENSP00000498484.1:p.Ala87=
ENST00000651373.1:c.183C>A	ENSP00000499174.1:p.Ala61=
ENST00000651501.1:c.*116C>A	ENSP00000498894.1:n.*116C>A
ENST00000651717.1:c.253-11995C>A	ENSP00000499124.1:n.253-11995C>A
ENST00000652036.1:c.294C>A	ENSP00000499139.1:p.Ala98=
ENST00000652154.1:n.567C>A
ENST00000295497.11:c.294C>A	ENSP00000295497.7:p.Ala98=
ENST00000409089.6:c.-7C>A	ENSP00000386322.2:n.-7C>A
ENST00000409156.7:c.591C>A	ENSP00000386470.3:p.Ala197=
ENST00000409597.5:c.117C>A	ENSP00000386469.1:p.Ala39=
ENST00000409900.7:c.669C>A	ENSP00000386741.3:p.Ala223=
ENST00000413882.5:c.123C>A	ENSP00000410496.1:p.Ala41=
ENST00000425395.5:c.*220C>A	ENSP00000405270.1:n.*220C>A
ENST00000443238.5:c.147C>A	ENSP00000409798.1:p.Ala49=
ENST00000444394.5:c.-7C>A	ENSP00000411911.1:n.-7C>A
ENST00000444573.1:c.294C>A	ENSP00000392603.1:p.Ala98=
ENST00000485882.1:n.128C>A
ENST00000488080.5:n.520C>A
NM_001025201.3:c.591C>A	NP_001020372.2:p.Ala197=
NM_001206602.1:c.294C>A	NP_001193531.1:p.Ala98=
NM_001822.5:c.669C>A	NP_001813.1:p.Ala223=
NR_038133.1:n.535C>A
NM_001025201.4:c.591C>A	NP_001020372.2:p.Ala197=
NM_001206602.2:c.294C>A	NP_001193531.1:p.Ala98=
NM_001371513.1:c.669C>A	NP_001358442.1:p.Ala223=
NM_001371514.1:c.720C>A	NP_001358443.1:p.Ala240=
NM_001822.7:c.669C>A MANE Select	NP_001813.1:p.Ala223=
NR_038133.2:n.537C>A