Canonical Allele Identifier: CA430017395

Gene: CHN1

Linked Data

• dbSNP Id: rs1397041450
• gnomAD v2: 2-175665009-G-C
• gnomAD v4: 2-174800281-G-C
• MyVariant Identifiers: chr2:g.175665009G>C (hg19) ; chr2:g.174800281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800281G>C , CM000664.2:g.174800281G>C	GRCh38
NC_000002.11:g.175665009G>C , CM000664.1:g.175665009G>C	GRCh37
NC_000002.10:g.175373255G>C	NCBI36
NG_012642.1:g.210162C>G
NG_012642.2:g.210162C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.840C>G	ENSP00000295497.7:p.Thr280=
ENST00000295497.12:c.840C>G	ENSP00000295497.7:p.Thr280=
ENST00000409089.7:c.591C>G	ENSP00000386322.3:p.Thr197=
ENST00000409900.9:c.1215C>G MANE Select	ENSP00000386741.4:p.Thr405=
ENST00000413882.6:c.669C>G	ENSP00000410496.2:p.Thr223=
ENST00000443238.6:c.693C>G	ENSP00000409798.2:p.Thr231=
ENST00000488080.6:n.858C>G
ENST00000650731.1:c.540C>G	ENSP00000499146.1:p.Thr180=
ENST00000650938.1:c.601C>G
ENST00000651246.1:c.807C>G	ENSP00000498484.1:p.Thr269=
ENST00000651501.1:c.*662C>G	ENSP00000498894.1:n.*662C>G
ENST00000651717.1:c.*491C>G	ENSP00000499124.1:n.*491C>G
ENST00000652036.1:c.891C>G	ENSP00000499139.1:p.Thr297=
ENST00000295497.11:c.840C>G	ENSP00000295497.7:p.Thr280=
ENST00000409156.7:c.1137C>G	ENSP00000386470.3:p.Thr379=
ENST00000409597.5:c.663C>G	ENSP00000386469.1:p.Thr221=
ENST00000409900.7:c.1215C>G	ENSP00000386741.3:p.Thr405=
ENST00000488080.5:n.1066C>G
ENST00000492964.1:n.358C>G
NM_001025201.3:c.1137C>G	NP_001020372.2:p.Thr379=
NM_001206602.1:c.840C>G	NP_001193531.1:p.Thr280=
NM_001822.5:c.1215C>G	NP_001813.1:p.Thr405=
NR_038133.1:n.1081C>G
NM_001025201.4:c.1137C>G	NP_001020372.2:p.Thr379=
NM_001206602.2:c.840C>G	NP_001193531.1:p.Thr280=
NM_001371513.1:c.1215C>G	NP_001358442.1:p.Thr405=
NM_001371514.1:c.1266C>G	NP_001358443.1:p.Thr422=
NM_001822.7:c.1215C>G MANE Select	NP_001813.1:p.Thr405=
NR_038133.2:n.1083C>G