Canonical Allele Identifier: CA349342197

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800190-C-A
• MyVariant Identifiers: chr2:g.175664918C>A (hg19) ; chr2:g.174800190C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800190C>A , CM000664.2:g.174800190C>A	GRCh38
NC_000002.11:g.175664918C>A , CM000664.1:g.175664918C>A	GRCh37
NC_000002.10:g.175373164C>A	NCBI36
NG_012642.1:g.210253G>T
NG_012642.2:g.210253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.931G>T	ENSP00000295497.7:p.Ala311Ser
ENST00000295497.12:c.931G>T	ENSP00000295497.7:p.Ala311Ser
ENST00000409900.9:c.1306G>T MANE Select	ENSP00000386741.4:p.Ala436Ser
ENST00000413882.6:c.760G>T	ENSP00000410496.2:p.Ala254Ser
ENST00000443238.6:c.784G>T	ENSP00000409798.2:p.Ala262Ser
ENST00000488080.6:n.949G>T
ENST00000650731.1:c.631G>T	ENSP00000499146.1:p.Ala211Ser
ENST00000650938.1:c.692G>T
ENST00000651246.1:c.898G>T	ENSP00000498484.1:p.Ala300Ser
ENST00000651501.1:c.*753G>T	ENSP00000498894.1:n.*753G>T
ENST00000651717.1:c.*582G>T	ENSP00000499124.1:n.*582G>T
ENST00000652036.1:c.982G>T	ENSP00000499139.1:p.Ala328Ser
ENST00000295497.11:c.931G>T	ENSP00000295497.7:p.Ala311Ser
ENST00000409156.7:c.1228G>T	ENSP00000386470.3:p.Ala410Ser
ENST00000409597.5:c.754G>T	ENSP00000386469.1:p.Ala252Ser
ENST00000409900.7:c.1306G>T	ENSP00000386741.3:p.Ala436Ser
ENST00000488080.5:n.1157G>T
ENST00000492964.1:n.449G>T
NM_001025201.3:c.1228G>T	NP_001020372.2:p.Ala410Ser
NM_001206602.1:c.931G>T	NP_001193531.1:p.Ala311Ser
NM_001822.5:c.1306G>T	NP_001813.1:p.Ala436Ser
NR_038133.1:n.1172G>T
NM_001025201.4:c.1228G>T	NP_001020372.2:p.Ala410Ser
NM_001206602.2:c.931G>T	NP_001193531.1:p.Ala311Ser
NM_001371513.1:c.1306G>T	NP_001358442.1:p.Ala436Ser
NM_001371514.1:c.1357G>T	NP_001358443.1:p.Ala453Ser
NM_001822.7:c.1306G>T MANE Select	NP_001813.1:p.Ala436Ser
NR_038133.2:n.1174G>T