Canonical Allele Identifier: CA349347813

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824478-G-T
• MyVariant Identifiers: chr2:g.175689206G>T (hg19) ; chr2:g.174824478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824478G>T , CM000664.2:g.174824478G>T	GRCh38
NC_000002.11:g.175689206G>T , CM000664.1:g.175689206G>T	GRCh37
NC_000002.10:g.175397452G>T	NCBI36
NG_012642.1:g.185965C>A
NG_012642.2:g.185965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.293C>A	ENSP00000295497.7:p.Ala98Asp
ENST00000444394.7:c.293C>A	ENSP00000411911.2:p.Ala98Asp
ENST00000295497.12:c.293C>A	ENSP00000295497.7:p.Ala98Asp
ENST00000409089.7:c.-8C>A	ENSP00000386322.3:n.-8C>A
ENST00000409900.9:c.668C>A MANE Select	ENSP00000386741.4:p.Ala223Asp
ENST00000413882.6:c.122C>A	ENSP00000410496.2:p.Ala41Asp
ENST00000425395.6:c.*115C>A	ENSP00000405270.2:n.*115C>A
ENST00000443238.6:c.146C>A	ENSP00000409798.2:p.Ala49Asp
ENST00000444394.6:c.293C>A	ENSP00000411911.2:p.Ala98Asp
ENST00000444573.2:c.512C>A	ENSP00000392603.2:p.Ala171Asp
ENST00000488080.6:n.311C>A
ENST00000650731.1:c.-8C>A	ENSP00000499146.1:n.-8C>A
ENST00000650938.1:c.192C>A
ENST00000651246.1:c.260C>A	ENSP00000498484.1:p.Ala87Asp
ENST00000651373.1:c.182C>A	ENSP00000499174.1:p.Ala61Asp
ENST00000651501.1:c.*115C>A	ENSP00000498894.1:n.*115C>A
ENST00000651717.1:c.253-11996C>A	ENSP00000499124.1:n.253-11996C>A
ENST00000652036.1:c.293C>A	ENSP00000499139.1:p.Ala98Asp
ENST00000652154.1:n.566C>A
ENST00000295497.11:c.293C>A	ENSP00000295497.7:p.Ala98Asp
ENST00000409089.6:c.-8C>A	ENSP00000386322.2:n.-8C>A
ENST00000409156.7:c.590C>A	ENSP00000386470.3:p.Ala197Asp
ENST00000409597.5:c.116C>A	ENSP00000386469.1:p.Ala39Asp
ENST00000409900.7:c.668C>A	ENSP00000386741.3:p.Ala223Asp
ENST00000413882.5:c.122C>A	ENSP00000410496.1:p.Ala41Asp
ENST00000425395.5:c.*219C>A	ENSP00000405270.1:n.*219C>A
ENST00000443238.5:c.146C>A	ENSP00000409798.1:p.Ala49Asp
ENST00000444394.5:c.-8C>A	ENSP00000411911.1:n.-8C>A
ENST00000444573.1:c.293C>A	ENSP00000392603.1:p.Ala98Asp
ENST00000485882.1:n.127C>A
ENST00000488080.5:n.519C>A
NM_001025201.3:c.590C>A	NP_001020372.2:p.Ala197Asp
NM_001206602.1:c.293C>A	NP_001193531.1:p.Ala98Asp
NM_001822.5:c.668C>A	NP_001813.1:p.Ala223Asp
NR_038133.1:n.534C>A
NM_001025201.4:c.590C>A	NP_001020372.2:p.Ala197Asp
NM_001206602.2:c.293C>A	NP_001193531.1:p.Ala98Asp
NM_001371513.1:c.668C>A	NP_001358442.1:p.Ala223Asp
NM_001371514.1:c.719C>A	NP_001358443.1:p.Ala240Asp
NM_001822.7:c.668C>A MANE Select	NP_001813.1:p.Ala223Asp
NR_038133.2:n.536C>A