Canonical Allele Identifier: CA1974784

Gene: CHN1

Linked Data

• dbSNP Id: rs745464331
• ExAC: 2:175664931 T / A
• gnomAD v2: 2-175664931-T-A
• gnomAD v4: 2-174800203-T-A
• MyVariant Identifiers: chr2:g.175664931T>A (hg19) ; chr2:g.174800203T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800203T>A , CM000664.2:g.174800203T>A	GRCh38
NC_000002.11:g.175664931T>A , CM000664.1:g.175664931T>A	GRCh37
NC_000002.10:g.175373177T>A	NCBI36
NG_012642.1:g.210240A>T
NG_012642.2:g.210240A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.918A>T	ENSP00000295497.7:p.Glu306Asp
ENST00000295497.12:c.918A>T	ENSP00000295497.7:p.Glu306Asp
ENST00000409900.9:c.1293A>T MANE Select	ENSP00000386741.4:p.Glu431Asp
ENST00000413882.6:c.747A>T	ENSP00000410496.2:p.Glu249Asp
ENST00000443238.6:c.771A>T	ENSP00000409798.2:p.Glu257Asp
ENST00000488080.6:n.936A>T
ENST00000650731.1:c.618A>T	ENSP00000499146.1:p.Glu206Asp
ENST00000650938.1:c.679A>T
ENST00000651246.1:c.885A>T	ENSP00000498484.1:p.Glu295Asp
ENST00000651501.1:c.*740A>T	ENSP00000498894.1:n.*740A>T
ENST00000651717.1:c.*569A>T	ENSP00000499124.1:n.*569A>T
ENST00000652036.1:c.969A>T	ENSP00000499139.1:p.Glu323Asp
ENST00000295497.11:c.918A>T	ENSP00000295497.7:p.Glu306Asp
ENST00000409156.7:c.1215A>T	ENSP00000386470.3:p.Glu405Asp
ENST00000409597.5:c.741A>T	ENSP00000386469.1:p.Glu247Asp
ENST00000409900.7:c.1293A>T	ENSP00000386741.3:p.Glu431Asp
ENST00000488080.5:n.1144A>T
ENST00000492964.1:n.436A>T
NM_001025201.3:c.1215A>T	NP_001020372.2:p.Glu405Asp
NM_001206602.1:c.918A>T	NP_001193531.1:p.Glu306Asp
NM_001822.5:c.1293A>T	NP_001813.1:p.Glu431Asp
NR_038133.1:n.1159A>T
NM_001025201.4:c.1215A>T	NP_001020372.2:p.Glu405Asp
NM_001206602.2:c.918A>T	NP_001193531.1:p.Glu306Asp
NM_001371513.1:c.1293A>T	NP_001358442.1:p.Glu431Asp
NM_001371514.1:c.1344A>T	NP_001358443.1:p.Glu448Asp
NM_001822.7:c.1293A>T MANE Select	NP_001813.1:p.Glu431Asp
NR_038133.2:n.1161A>T