Canonical Allele Identifier: CA16040298

Gene: CHN1

Linked Data

• dbSNP Id: rs948607977
• gnomAD v2: 2-175689174-C-G
• gnomAD v3: 2-174824446-C-G
• gnomAD v4: 2-174824446-C-G
• MyVariant Identifiers: chr2:g.175689174C>G (hg19) ; chr2:g.174824446C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824446C>G , CM000664.2:g.174824446C>G	GRCh38
NC_000002.11:g.175689174C>G , CM000664.1:g.175689174C>G	GRCh37
NC_000002.10:g.175397420C>G	NCBI36
NG_012642.1:g.185997G>C
NG_012642.2:g.185997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.325G>C	ENSP00000295497.7:p.Val109Leu
ENST00000444394.7:c.325G>C	ENSP00000411911.2:p.Val109Leu
ENST00000295497.12:c.325G>C	ENSP00000295497.7:p.Val109Leu
ENST00000409089.7:c.25G>C	ENSP00000386322.3:p.Val9Leu
ENST00000409900.9:c.700G>C MANE Select	ENSP00000386741.4:p.Val234Leu
ENST00000413882.6:c.154G>C	ENSP00000410496.2:p.Val52Leu
ENST00000425395.6:c.*147G>C	ENSP00000405270.2:n.*147G>C
ENST00000443238.6:c.178G>C	ENSP00000409798.2:p.Val60Leu
ENST00000444394.6:c.325G>C	ENSP00000411911.2:p.Val109Leu
ENST00000444573.2:c.544G>C	ENSP00000392603.2:p.Val182Leu
ENST00000488080.6:n.343G>C
ENST00000650731.1:c.25G>C	ENSP00000499146.1:p.Val9Leu
ENST00000650938.1:c.224G>C
ENST00000651246.1:c.292G>C	ENSP00000498484.1:p.Val98Leu
ENST00000651373.1:c.214G>C	ENSP00000499174.1:p.Val72Leu
ENST00000651501.1:c.*147G>C	ENSP00000498894.1:n.*147G>C
ENST00000651717.1:c.253-11964G>C	ENSP00000499124.1:n.253-11964G>C
ENST00000652036.1:c.325G>C	ENSP00000499139.1:p.Val109Leu
ENST00000652154.1:n.598G>C
ENST00000295497.11:c.325G>C	ENSP00000295497.7:p.Val109Leu
ENST00000409089.6:c.25G>C	ENSP00000386322.2:p.Val9Leu
ENST00000409156.7:c.622G>C	ENSP00000386470.3:p.Val208Leu
ENST00000409597.5:c.148G>C	ENSP00000386469.1:p.Val50Leu
ENST00000409900.7:c.700G>C	ENSP00000386741.3:p.Val234Leu
ENST00000413882.5:c.154G>C	ENSP00000410496.1:p.Val52Leu
ENST00000425395.5:c.*251G>C	ENSP00000405270.1:n.*251G>C
ENST00000443238.5:c.178G>C	ENSP00000409798.1:p.Val60Leu
ENST00000444394.5:c.25G>C	ENSP00000411911.1:p.Val9Leu
ENST00000444573.1:c.325G>C	ENSP00000392603.1:p.Val109Leu
ENST00000485882.1:n.159G>C
ENST00000488080.5:n.551G>C
NM_001025201.3:c.622G>C	NP_001020372.2:p.Val208Leu
NM_001206602.1:c.325G>C	NP_001193531.1:p.Val109Leu
NM_001822.5:c.700G>C	NP_001813.1:p.Val234Leu
NR_038133.1:n.566G>C
NM_001025201.4:c.622G>C	NP_001020372.2:p.Val208Leu
NM_001206602.2:c.325G>C	NP_001193531.1:p.Val109Leu
NM_001371513.1:c.700G>C	NP_001358442.1:p.Val234Leu
NM_001371514.1:c.751G>C	NP_001358443.1:p.Val251Leu
NM_001822.7:c.700G>C MANE Select	NP_001813.1:p.Val234Leu
NR_038133.2:n.568G>C