Canonical Allele Identifier: CA349342222

Gene: CHN1

Linked Data

• dbSNP Id: rs1684674764
• gnomAD v4: 2-174800196-C-T
• MyVariant Identifiers: chr2:g.175664924C>T (hg19) ; chr2:g.174800196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800196C>T , CM000664.2:g.174800196C>T	GRCh38
NC_000002.11:g.175664924C>T , CM000664.1:g.175664924C>T	GRCh37
NC_000002.10:g.175373170C>T	NCBI36
NG_012642.1:g.210247G>A
NG_012642.2:g.210247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.925G>A	ENSP00000295497.7:p.Ala309Thr
ENST00000295497.12:c.925G>A	ENSP00000295497.7:p.Ala309Thr
ENST00000409900.9:c.1300G>A MANE Select	ENSP00000386741.4:p.Ala434Thr
ENST00000413882.6:c.754G>A	ENSP00000410496.2:p.Ala252Thr
ENST00000443238.6:c.778G>A	ENSP00000409798.2:p.Ala260Thr
ENST00000488080.6:n.943G>A
ENST00000650731.1:c.625G>A	ENSP00000499146.1:p.Ala209Thr
ENST00000650938.1:c.686G>A
ENST00000651246.1:c.892G>A	ENSP00000498484.1:p.Ala298Thr
ENST00000651501.1:c.*747G>A	ENSP00000498894.1:n.*747G>A
ENST00000651717.1:c.*576G>A	ENSP00000499124.1:n.*576G>A
ENST00000652036.1:c.976G>A	ENSP00000499139.1:p.Ala326Thr
ENST00000295497.11:c.925G>A	ENSP00000295497.7:p.Ala309Thr
ENST00000409156.7:c.1222G>A	ENSP00000386470.3:p.Ala408Thr
ENST00000409597.5:c.748G>A	ENSP00000386469.1:p.Ala250Thr
ENST00000409900.7:c.1300G>A	ENSP00000386741.3:p.Ala434Thr
ENST00000488080.5:n.1151G>A
ENST00000492964.1:n.443G>A
NM_001025201.3:c.1222G>A	NP_001020372.2:p.Ala408Thr
NM_001206602.1:c.925G>A	NP_001193531.1:p.Ala309Thr
NM_001822.5:c.1300G>A	NP_001813.1:p.Ala434Thr
NR_038133.1:n.1166G>A
NM_001025201.4:c.1222G>A	NP_001020372.2:p.Ala408Thr
NM_001206602.2:c.925G>A	NP_001193531.1:p.Ala309Thr
NM_001371513.1:c.1300G>A	NP_001358442.1:p.Ala434Thr
NM_001371514.1:c.1351G>A	NP_001358443.1:p.Ala451Thr
NM_001822.7:c.1300G>A MANE Select	NP_001813.1:p.Ala434Thr
NR_038133.2:n.1168G>A