Canonical Allele Identifier: CA349342183

Gene: CHN1

Linked Data

• dbSNP Id: rs1361748388
• gnomAD v2: 2-175664915-C-T
• gnomAD v4: 2-174800187-C-T
• MyVariant Identifiers: chr2:g.175664915C>T (hg19) ; chr2:g.174800187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800187C>T , CM000664.2:g.174800187C>T	GRCh38
NC_000002.11:g.175664915C>T , CM000664.1:g.175664915C>T	GRCh37
NC_000002.10:g.175373161C>T	NCBI36
NG_012642.1:g.210256G>A
NG_012642.2:g.210256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.934G>A	ENSP00000295497.7:p.Ala312Thr
ENST00000295497.12:c.934G>A	ENSP00000295497.7:p.Ala312Thr
ENST00000409900.9:c.1309G>A MANE Select	ENSP00000386741.4:p.Ala437Thr
ENST00000413882.6:c.763G>A	ENSP00000410496.2:p.Ala255Thr
ENST00000443238.6:c.787G>A	ENSP00000409798.2:p.Ala263Thr
ENST00000488080.6:n.952G>A
ENST00000650731.1:c.634G>A	ENSP00000499146.1:p.Ala212Thr
ENST00000650938.1:c.695G>A
ENST00000651246.1:c.901G>A	ENSP00000498484.1:p.Ala301Thr
ENST00000651501.1:c.*756G>A	ENSP00000498894.1:n.*756G>A
ENST00000651717.1:c.*585G>A	ENSP00000499124.1:n.*585G>A
ENST00000652036.1:c.985G>A	ENSP00000499139.1:p.Ala329Thr
ENST00000295497.11:c.934G>A	ENSP00000295497.7:p.Ala312Thr
ENST00000409156.7:c.1231G>A	ENSP00000386470.3:p.Ala411Thr
ENST00000409597.5:c.757G>A	ENSP00000386469.1:p.Ala253Thr
ENST00000409900.7:c.1309G>A	ENSP00000386741.3:p.Ala437Thr
ENST00000488080.5:n.1160G>A
ENST00000492964.1:n.452G>A
NM_001025201.3:c.1231G>A	NP_001020372.2:p.Ala411Thr
NM_001206602.1:c.934G>A	NP_001193531.1:p.Ala312Thr
NM_001822.5:c.1309G>A	NP_001813.1:p.Ala437Thr
NR_038133.1:n.1175G>A
NM_001025201.4:c.1231G>A	NP_001020372.2:p.Ala411Thr
NM_001206602.2:c.934G>A	NP_001193531.1:p.Ala312Thr
NM_001371513.1:c.1309G>A	NP_001358442.1:p.Ala437Thr
NM_001371514.1:c.1360G>A	NP_001358443.1:p.Ala454Thr
NM_001822.7:c.1309G>A MANE Select	NP_001813.1:p.Ala437Thr
NR_038133.2:n.1177G>A