Canonical Allele Identifier: CA349341870

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800128-G-T
• MyVariant Identifiers: chr2:g.175664856G>T (hg19) ; chr2:g.174800128G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800128G>T , CM000664.2:g.174800128G>T	GRCh38
NC_000002.11:g.175664856G>T , CM000664.1:g.175664856G>T	GRCh37
NC_000002.10:g.175373102G>T	NCBI36
NG_012642.1:g.210315C>A
NG_012642.2:g.210315C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.993C>A	ENSP00000295497.7:p.Asp331Glu
ENST00000295497.12:c.993C>A	ENSP00000295497.7:p.Asp331Glu
ENST00000409900.9:c.1368C>A MANE Select	ENSP00000386741.4:p.Asp456Glu
ENST00000413882.6:c.822C>A	ENSP00000410496.2:p.Asp274Glu
ENST00000443238.6:c.846C>A	ENSP00000409798.2:p.Asp282Glu
ENST00000488080.6:n.1011C>A
ENST00000650731.1:c.693C>A	ENSP00000499146.1:p.Asp231Glu
ENST00000650938.1:c.754C>A
ENST00000651246.1:c.960C>A	ENSP00000498484.1:p.Asp320Glu
ENST00000651501.1:c.*815C>A	ENSP00000498894.1:n.*815C>A
ENST00000651717.1:c.*644C>A	ENSP00000499124.1:n.*644C>A
ENST00000652036.1:c.1044C>A	ENSP00000499139.1:p.Asp348Glu
ENST00000295497.11:c.993C>A	ENSP00000295497.7:p.Asp331Glu
ENST00000409156.7:c.1290C>A	ENSP00000386470.3:p.Asp430Glu
ENST00000409597.5:c.816C>A	ENSP00000386469.1:p.Asp272Glu
ENST00000409900.7:c.1368C>A	ENSP00000386741.3:p.Asp456Glu
ENST00000488080.5:n.1219C>A
ENST00000492964.1:n.511C>A
NM_001025201.3:c.1290C>A	NP_001020372.2:p.Asp430Glu
NM_001206602.1:c.993C>A	NP_001193531.1:p.Asp331Glu
NM_001822.5:c.1368C>A	NP_001813.1:p.Asp456Glu
NR_038133.1:n.1234C>A
NM_001025201.4:c.1290C>A	NP_001020372.2:p.Asp430Glu
NM_001206602.2:c.993C>A	NP_001193531.1:p.Asp331Glu
NM_001371513.1:c.1368C>A	NP_001358442.1:p.Asp456Glu
NM_001371514.1:c.1419C>A	NP_001358443.1:p.Asp473Glu
NM_001822.7:c.1368C>A MANE Select	NP_001813.1:p.Asp456Glu
NR_038133.2:n.1236C>A