Canonical Allele Identifier: CA1974776

Gene: CHN1

Linked Data

• ClinVar Variation Id: 421756
• ClinVar RCV Id: RCV000486359
• dbSNP Id: rs755106615
• ExAC: 2:175664882 C / T
• gnomAD v2: 2-175664882-C-T
• gnomAD v4: 2-174800154-C-T
• MyVariant Identifiers: chr2:g.175664882C>T (hg19) ; chr2:g.174800154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800154C>T , CM000664.2:g.174800154C>T	GRCh38
NC_000002.11:g.175664882C>T , CM000664.1:g.175664882C>T	GRCh37
NC_000002.10:g.175373128C>T	NCBI36
NG_012642.1:g.210289G>A
NG_012642.2:g.210289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.967G>A	ENSP00000295497.7:p.Val323Met
ENST00000295497.12:c.967G>A	ENSP00000295497.7:p.Val323Met
ENST00000409900.9:c.1342G>A MANE Select	ENSP00000386741.4:p.Val448Met
ENST00000413882.6:c.796G>A	ENSP00000410496.2:p.Val266Met
ENST00000443238.6:c.820G>A	ENSP00000409798.2:p.Val274Met
ENST00000488080.6:n.985G>A
ENST00000650731.1:c.667G>A	ENSP00000499146.1:p.Val223Met
ENST00000650938.1:c.728G>A
ENST00000651246.1:c.934G>A	ENSP00000498484.1:p.Val312Met
ENST00000651501.1:c.*789G>A	ENSP00000498894.1:n.*789G>A
ENST00000651717.1:c.*618G>A	ENSP00000499124.1:n.*618G>A
ENST00000652036.1:c.1018G>A	ENSP00000499139.1:p.Val340Met
ENST00000295497.11:c.967G>A	ENSP00000295497.7:p.Val323Met
ENST00000409156.7:c.1264G>A	ENSP00000386470.3:p.Val422Met
ENST00000409597.5:c.790G>A	ENSP00000386469.1:p.Val264Met
ENST00000409900.7:c.1342G>A	ENSP00000386741.3:p.Val448Met
ENST00000488080.5:n.1193G>A
ENST00000492964.1:n.485G>A
NM_001025201.3:c.1264G>A	NP_001020372.2:p.Val422Met
NM_001206602.1:c.967G>A	NP_001193531.1:p.Val323Met
NM_001822.5:c.1342G>A	NP_001813.1:p.Val448Met
NR_038133.1:n.1208G>A
NM_001025201.4:c.1264G>A	NP_001020372.2:p.Val422Met
NM_001206602.2:c.967G>A	NP_001193531.1:p.Val323Met
NM_001371513.1:c.1342G>A	NP_001358442.1:p.Val448Met
NM_001371514.1:c.1393G>A	NP_001358443.1:p.Val465Met
NM_001822.7:c.1342G>A MANE Select	NP_001813.1:p.Val448Met
NR_038133.2:n.1210G>A