Canonical Allele Identifier: CA1974771

Gene: CHN1

Linked Data

• ClinVar Variation Id: 788086
• ClinVar RCV Id: RCV000970430
• dbSNP Id: rs559753925
• ExAC: 2:175664856 G / A
• gnomAD v2: 2-175664856-G-A
• gnomAD v3: 2-174800128-G-A
• gnomAD v4: 2-174800128-G-A
• MyVariant Identifiers: chr2:g.175664856G>A (hg19) ; chr2:g.174800128G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.993C>T	ENSP00000295497.7:p.Asp331=
ENST00000295497.12:c.993C>T	ENSP00000295497.7:p.Asp331=
ENST00000409900.9:c.1368C>T MANE Select	ENSP00000386741.4:p.Asp456=
ENST00000413882.6:c.822C>T	ENSP00000410496.2:p.Asp274=
ENST00000443238.6:c.846C>T	ENSP00000409798.2:p.Asp282=
ENST00000488080.6:n.1011C>T
ENST00000650731.1:c.693C>T	ENSP00000499146.1:p.Asp231=
ENST00000650938.1:c.754C>T
ENST00000651246.1:c.960C>T	ENSP00000498484.1:p.Asp320=
ENST00000651501.1:c.*815C>T	ENSP00000498894.1:n.*815C>T
ENST00000651717.1:c.*644C>T	ENSP00000499124.1:n.*644C>T
ENST00000652036.1:c.1044C>T	ENSP00000499139.1:p.Asp348=
ENST00000295497.11:c.993C>T	ENSP00000295497.7:p.Asp331=
ENST00000409156.7:c.1290C>T	ENSP00000386470.3:p.Asp430=
ENST00000409597.5:c.816C>T	ENSP00000386469.1:p.Asp272=
ENST00000409900.7:c.1368C>T	ENSP00000386741.3:p.Asp456=
ENST00000488080.5:n.1219C>T
ENST00000492964.1:n.511C>T
NM_001025201.3:c.1290C>T	NP_001020372.2:p.Asp430=
NM_001206602.1:c.993C>T	NP_001193531.1:p.Asp331=
NM_001822.5:c.1368C>T	NP_001813.1:p.Asp456=
NR_038133.1:n.1234C>T
NM_001025201.4:c.1290C>T	NP_001020372.2:p.Asp430=
NM_001206602.2:c.993C>T	NP_001193531.1:p.Asp331=
NM_001371513.1:c.1368C>T	NP_001358442.1:p.Asp456=
NM_001371514.1:c.1419C>T	NP_001358443.1:p.Asp473=
NM_001822.7:c.1368C>T MANE Select	NP_001813.1:p.Asp456=
NR_038133.2:n.1236C>T