Canonical Allele Identifier: CA349342737

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800283-T-C
• MyVariant Identifiers: chr2:g.175665011T>C (hg19) ; chr2:g.174800283T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800283T>C , CM000664.2:g.174800283T>C	GRCh38
NC_000002.11:g.175665011T>C , CM000664.1:g.175665011T>C	GRCh37
NC_000002.10:g.175373257T>C	NCBI36
NG_012642.1:g.210160A>G
NG_012642.2:g.210160A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.838A>G	ENSP00000295497.7:p.Thr280Ala
ENST00000295497.12:c.838A>G	ENSP00000295497.7:p.Thr280Ala
ENST00000409089.7:c.589A>G	ENSP00000386322.3:p.Thr197Ala
ENST00000409900.9:c.1213A>G MANE Select	ENSP00000386741.4:p.Thr405Ala
ENST00000413882.6:c.667A>G	ENSP00000410496.2:p.Thr223Ala
ENST00000443238.6:c.691A>G	ENSP00000409798.2:p.Thr231Ala
ENST00000488080.6:n.856A>G
ENST00000650731.1:c.538A>G	ENSP00000499146.1:p.Thr180Ala
ENST00000650938.1:c.599A>G
ENST00000651246.1:c.805A>G	ENSP00000498484.1:p.Thr269Ala
ENST00000651501.1:c.*660A>G	ENSP00000498894.1:n.*660A>G
ENST00000651717.1:c.*489A>G	ENSP00000499124.1:n.*489A>G
ENST00000652036.1:c.889A>G	ENSP00000499139.1:p.Thr297Ala
ENST00000295497.11:c.838A>G	ENSP00000295497.7:p.Thr280Ala
ENST00000409156.7:c.1135A>G	ENSP00000386470.3:p.Thr379Ala
ENST00000409597.5:c.661A>G	ENSP00000386469.1:p.Thr221Ala
ENST00000409900.7:c.1213A>G	ENSP00000386741.3:p.Thr405Ala
ENST00000488080.5:n.1064A>G
ENST00000492964.1:n.356A>G
NM_001025201.3:c.1135A>G	NP_001020372.2:p.Thr379Ala
NM_001206602.1:c.838A>G	NP_001193531.1:p.Thr280Ala
NM_001822.5:c.1213A>G	NP_001813.1:p.Thr405Ala
NR_038133.1:n.1079A>G
NM_001025201.4:c.1135A>G	NP_001020372.2:p.Thr379Ala
NM_001206602.2:c.838A>G	NP_001193531.1:p.Thr280Ala
NM_001371513.1:c.1213A>G	NP_001358442.1:p.Thr405Ala
NM_001371514.1:c.1264A>G	NP_001358443.1:p.Thr422Ala
NM_001822.7:c.1213A>G MANE Select	NP_001813.1:p.Thr405Ala
NR_038133.2:n.1081A>G