Canonical Allele Identifier: CA430016442

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800116-T-C
• MyVariant Identifiers: chr2:g.175664844T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800116T>C , CM000664.2:g.174800116T>C	GRCh38
NC_000002.11:g.175664844T>C , CM000664.1:g.175664844T>C	GRCh37
NC_000002.10:g.175373090T>C	NCBI36
NG_012642.1:g.210327A>G
NG_012642.2:g.210327A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.1005A>G	ENSP00000295497.7:p.Ter335=
ENST00000295497.12:c.1005A>G	ENSP00000295497.7:p.Ter335=
ENST00000409900.9:c.1380A>G MANE Select	ENSP00000386741.4:p.Ter460=
ENST00000413882.6:c.834A>G	ENSP00000410496.2:p.Ter278=
ENST00000443238.6:c.858A>G	ENSP00000409798.2:p.Ter286=
ENST00000488080.6:n.1023A>G
ENST00000650731.1:c.705A>G	ENSP00000499146.1:p.Ter235=
ENST00000650938.1:c.766A>G
ENST00000651246.1:c.972A>G	ENSP00000498484.1:p.Ter324=
ENST00000651501.1:c.*827A>G	ENSP00000498894.1:n.*827A>G
ENST00000651717.1:c.*656A>G	ENSP00000499124.1:n.*656A>G
ENST00000652036.1:c.1056A>G	ENSP00000499139.1:p.Ter352=
ENST00000295497.11:c.1005A>G	ENSP00000295497.7:p.Ter335=
ENST00000409156.7:c.1302A>G	ENSP00000386470.3:p.Ter434=
ENST00000409597.5:c.828A>G	ENSP00000386469.1:p.Ter276=
ENST00000409900.7:c.1380A>G	ENSP00000386741.3:p.Ter460=
ENST00000488080.5:n.1231A>G
ENST00000492964.1:n.523A>G
NM_001025201.3:c.1302A>G	NP_001020372.2:p.Ter434=
NM_001206602.1:c.1005A>G	NP_001193531.1:p.Ter335=
NM_001822.5:c.1380A>G	NP_001813.1:p.Ter460=
NR_038133.1:n.1246A>G
NM_001025201.4:c.1302A>G	NP_001020372.2:p.Ter434=
NM_001206602.2:c.1005A>G	NP_001193531.1:p.Ter335=
NM_001371513.1:c.1380A>G	NP_001358442.1:p.Ter460=
NM_001371514.1:c.1431A>G	NP_001358443.1:p.Ter477=
NM_001822.7:c.1380A>G MANE Select	NP_001813.1:p.Ter460=
NR_038133.2:n.1248A>G