Canonical Allele Identifier: CA349347691

Gene: CHN1

Linked Data

• dbSNP Id: rs1685613477
• MyVariant Identifiers: chr2:g.175689173A>G (hg19) ; chr2:g.174824445A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824445A>G , CM000664.2:g.174824445A>G	GRCh38
NC_000002.11:g.175689173A>G , CM000664.1:g.175689173A>G	GRCh37
NC_000002.10:g.175397419A>G	NCBI36
NG_012642.1:g.185998T>C
NG_012642.2:g.185998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.326T>C	ENSP00000295497.7:p.Val109Ala
ENST00000444394.7:c.326T>C	ENSP00000411911.2:p.Val109Ala
ENST00000295497.12:c.326T>C	ENSP00000295497.7:p.Val109Ala
ENST00000409089.7:c.26T>C	ENSP00000386322.3:p.Val9Ala
ENST00000409900.9:c.701T>C MANE Select	ENSP00000386741.4:p.Val234Ala
ENST00000413882.6:c.155T>C	ENSP00000410496.2:p.Val52Ala
ENST00000425395.6:c.*148T>C	ENSP00000405270.2:n.*148T>C
ENST00000443238.6:c.179T>C	ENSP00000409798.2:p.Val60Ala
ENST00000444394.6:c.326T>C	ENSP00000411911.2:p.Val109Ala
ENST00000444573.2:c.545T>C	ENSP00000392603.2:p.Val182Ala
ENST00000488080.6:n.344T>C
ENST00000650731.1:c.26T>C	ENSP00000499146.1:p.Val9Ala
ENST00000650938.1:c.225T>C
ENST00000651246.1:c.293T>C	ENSP00000498484.1:p.Val98Ala
ENST00000651373.1:c.215T>C	ENSP00000499174.1:p.Val72Ala
ENST00000651501.1:c.*148T>C	ENSP00000498894.1:n.*148T>C
ENST00000651717.1:c.253-11963T>C	ENSP00000499124.1:n.253-11963T>C
ENST00000652036.1:c.326T>C	ENSP00000499139.1:p.Val109Ala
ENST00000652154.1:n.599T>C
ENST00000295497.11:c.326T>C	ENSP00000295497.7:p.Val109Ala
ENST00000409089.6:c.26T>C	ENSP00000386322.2:p.Val9Ala
ENST00000409156.7:c.623T>C	ENSP00000386470.3:p.Val208Ala
ENST00000409597.5:c.149T>C	ENSP00000386469.1:p.Val50Ala
ENST00000409900.7:c.701T>C	ENSP00000386741.3:p.Val234Ala
ENST00000413882.5:c.155T>C	ENSP00000410496.1:p.Val52Ala
ENST00000425395.5:c.*252T>C	ENSP00000405270.1:n.*252T>C
ENST00000443238.5:c.179T>C	ENSP00000409798.1:p.Val60Ala
ENST00000444394.5:c.26T>C	ENSP00000411911.1:p.Val9Ala
ENST00000444573.1:c.326T>C	ENSP00000392603.1:p.Val109Ala
ENST00000485882.1:n.160T>C
ENST00000488080.5:n.552T>C
NM_001025201.3:c.623T>C	NP_001020372.2:p.Val208Ala
NM_001206602.1:c.326T>C	NP_001193531.1:p.Val109Ala
NM_001822.5:c.701T>C	NP_001813.1:p.Val234Ala
NR_038133.1:n.567T>C
NM_001025201.4:c.623T>C	NP_001020372.2:p.Val208Ala
NM_001206602.2:c.326T>C	NP_001193531.1:p.Val109Ala
NM_001371513.1:c.701T>C	NP_001358442.1:p.Val234Ala
NM_001371514.1:c.752T>C	NP_001358443.1:p.Val251Ala
NM_001822.7:c.701T>C MANE Select	NP_001813.1:p.Val234Ala
NR_038133.2:n.569T>C