Canonical Allele Identifier: CA430022715

Gene: CHN1

Linked Data

• dbSNP Id: rs1267199698
• gnomAD v2: 2-175689172-C-T
• gnomAD v4: 2-174824444-C-T
• COSMIC: COSM5793016 ; COSM5793017
• MyVariant Identifiers: chr2:g.175689172C>T (hg19) ; chr2:g.174824444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824444C>T , CM000664.2:g.174824444C>T	GRCh38
NC_000002.11:g.175689172C>T , CM000664.1:g.175689172C>T	GRCh37
NC_000002.10:g.175397418C>T	NCBI36
NG_012642.1:g.185999G>A
NG_012642.2:g.185999G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.327G>A	ENSP00000295497.7:p.Val109=
ENST00000444394.7:c.327G>A	ENSP00000411911.2:p.Val109=
ENST00000295497.12:c.327G>A	ENSP00000295497.7:p.Val109=
ENST00000409089.7:c.27G>A	ENSP00000386322.3:p.Val9=
ENST00000409900.9:c.702G>A MANE Select	ENSP00000386741.4:p.Val234=
ENST00000413882.6:c.156G>A	ENSP00000410496.2:p.Val52=
ENST00000425395.6:c.*149G>A	ENSP00000405270.2:n.*149G>A
ENST00000443238.6:c.180G>A	ENSP00000409798.2:p.Val60=
ENST00000444394.6:c.327G>A	ENSP00000411911.2:p.Val109=
ENST00000444573.2:c.546G>A	ENSP00000392603.2:p.Val182=
ENST00000488080.6:n.345G>A
ENST00000650731.1:c.27G>A	ENSP00000499146.1:p.Val9=
ENST00000650938.1:c.226G>A
ENST00000651246.1:c.294G>A	ENSP00000498484.1:p.Val98=
ENST00000651373.1:c.216G>A	ENSP00000499174.1:p.Val72=
ENST00000651501.1:c.*149G>A	ENSP00000498894.1:n.*149G>A
ENST00000651717.1:c.253-11962G>A	ENSP00000499124.1:n.253-11962G>A
ENST00000652036.1:c.327G>A	ENSP00000499139.1:p.Val109=
ENST00000652154.1:n.600G>A
ENST00000295497.11:c.327G>A	ENSP00000295497.7:p.Val109=
ENST00000409089.6:c.27G>A	ENSP00000386322.2:p.Val9=
ENST00000409156.7:c.624G>A	ENSP00000386470.3:p.Val208=
ENST00000409597.5:c.150G>A	ENSP00000386469.1:p.Val50=
ENST00000409900.7:c.702G>A	ENSP00000386741.3:p.Val234=
ENST00000413882.5:c.156G>A	ENSP00000410496.1:p.Val52=
ENST00000425395.5:c.*253G>A	ENSP00000405270.1:n.*253G>A
ENST00000443238.5:c.180G>A	ENSP00000409798.1:p.Val60=
ENST00000444394.5:c.27G>A	ENSP00000411911.1:p.Val9=
ENST00000444573.1:c.327G>A	ENSP00000392603.1:p.Val109=
ENST00000485882.1:n.161G>A
ENST00000488080.5:n.553G>A
NM_001025201.3:c.624G>A	NP_001020372.2:p.Val208=
NM_001206602.1:c.327G>A	NP_001193531.1:p.Val109=
NM_001822.5:c.702G>A	NP_001813.1:p.Val234=
NR_038133.1:n.568G>A
NM_001025201.4:c.624G>A	NP_001020372.2:p.Val208=
NM_001206602.2:c.327G>A	NP_001193531.1:p.Val109=
NM_001371513.1:c.702G>A	NP_001358442.1:p.Val234=
NM_001371514.1:c.753G>A	NP_001358443.1:p.Val251=
NM_001822.7:c.702G>A MANE Select	NP_001813.1:p.Val234=
NR_038133.2:n.570G>A