Canonical Allele Identifier: CA349342713

Gene: CHN1

Linked Data

• dbSNP Id: rs1422020507
• gnomAD v2: 2-175665005-G-A
• gnomAD v4: 2-174800277-G-A
• MyVariant Identifiers: chr2:g.175665005G>A (hg19) ; chr2:g.174800277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800277G>A , CM000664.2:g.174800277G>A	GRCh38
NC_000002.11:g.175665005G>A , CM000664.1:g.175665005G>A	GRCh37
NC_000002.10:g.175373251G>A	NCBI36
NG_012642.1:g.210166C>T
NG_012642.2:g.210166C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.844C>T	ENSP00000295497.7:p.His282Tyr
ENST00000295497.12:c.844C>T	ENSP00000295497.7:p.His282Tyr
ENST00000409089.7:c.595C>T	ENSP00000386322.3:p.His199Tyr
ENST00000409900.9:c.1219C>T MANE Select	ENSP00000386741.4:p.His407Tyr
ENST00000413882.6:c.673C>T	ENSP00000410496.2:p.His225Tyr
ENST00000443238.6:c.697C>T	ENSP00000409798.2:p.His233Tyr
ENST00000488080.6:n.862C>T
ENST00000650731.1:c.544C>T	ENSP00000499146.1:p.His182Tyr
ENST00000650938.1:c.605C>T
ENST00000651246.1:c.811C>T	ENSP00000498484.1:p.His271Tyr
ENST00000651501.1:c.*666C>T	ENSP00000498894.1:n.*666C>T
ENST00000651717.1:c.*495C>T	ENSP00000499124.1:n.*495C>T
ENST00000652036.1:c.895C>T	ENSP00000499139.1:p.His299Tyr
ENST00000295497.11:c.844C>T	ENSP00000295497.7:p.His282Tyr
ENST00000409156.7:c.1141C>T	ENSP00000386470.3:p.His381Tyr
ENST00000409597.5:c.667C>T	ENSP00000386469.1:p.His223Tyr
ENST00000409900.7:c.1219C>T	ENSP00000386741.3:p.His407Tyr
ENST00000488080.5:n.1070C>T
ENST00000492964.1:n.362C>T
NM_001025201.3:c.1141C>T	NP_001020372.2:p.His381Tyr
NM_001206602.1:c.844C>T	NP_001193531.1:p.His282Tyr
NM_001822.5:c.1219C>T	NP_001813.1:p.His407Tyr
NR_038133.1:n.1085C>T
NM_001025201.4:c.1141C>T	NP_001020372.2:p.His381Tyr
NM_001206602.2:c.844C>T	NP_001193531.1:p.His282Tyr
NM_001371513.1:c.1219C>T	NP_001358442.1:p.His407Tyr
NM_001371514.1:c.1270C>T	NP_001358443.1:p.His424Tyr
NM_001822.7:c.1219C>T MANE Select	NP_001813.1:p.His407Tyr
NR_038133.2:n.1087C>T