Canonical Allele Identifier: CA537762538

Gene: CHN1

Linked Data

• dbSNP Id: rs1199689455
• gnomAD v2: 2-175664732-G-C
• gnomAD v3: 2-174800004-G-C
• gnomAD v4: 2-174800004-G-C
• MyVariant Identifiers: chr2:g.175664732G>C (hg19) ; chr2:g.174800004G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800004G>C , CM000664.2:g.174800004G>C	GRCh38
NC_000002.11:g.175664732G>C , CM000664.1:g.175664732G>C	GRCh37
NC_000002.10:g.175372978G>C	NCBI36
NG_012642.1:g.210439C>G
NG_012642.2:g.210439C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*112C>G	ENSP00000295497.7:n.*112C>G
ENST00000295497.12:c.*112C>G	ENSP00000295497.7:n.*112C>G
ENST00000409900.9:c.*112C>G MANE Select	ENSP00000386741.4:n.*112C>G
ENST00000413882.6:c.*112C>G	ENSP00000410496.2:n.*112C>G
ENST00000443238.6:c.*112C>G	ENSP00000409798.2:n.*112C>G
ENST00000488080.6:n.1135C>G
ENST00000650731.1:c.*112C>G	ENSP00000499146.1:n.*112C>G
ENST00000650938.1:c.878C>G
ENST00000651246.1:c.*112C>G	ENSP00000498484.1:n.*112C>G
ENST00000651501.1:c.*939C>G	ENSP00000498894.1:n.*939C>G
ENST00000651717.1:c.*768C>G	ENSP00000499124.1:n.*768C>G
ENST00000652036.1:c.*112C>G	ENSP00000499139.1:n.*112C>G
ENST00000295497.11:c.*112C>G	ENSP00000295497.7:n.*112C>G
ENST00000409156.7:c.*112C>G	ENSP00000386470.3:n.*112C>G
ENST00000409597.5:c.*112C>G	ENSP00000386469.1:n.*112C>G
ENST00000409900.7:c.*112C>G	ENSP00000386741.3:n.*112C>G
ENST00000488080.5:n.1343C>G
ENST00000492964.1:n.635C>G
NM_001025201.3:c.*112C>G	NP_001020372.2:n.*112C>G
NM_001206602.1:c.*112C>G	NP_001193531.1:n.*112C>G
NM_001822.5:c.*112C>G	NP_001813.1:n.*112C>G
NR_038133.1:n.1358C>G
NM_001025201.4:c.*112C>G	NP_001020372.2:n.*112C>G
NM_001206602.2:c.*112C>G	NP_001193531.1:n.*112C>G
NM_001371513.1:c.*112C>G	NP_001358442.1:n.*112C>G
NM_001371514.1:c.*112C>G	NP_001358443.1:n.*112C>G
NM_001822.7:c.*112C>G MANE Select	NP_001813.1:n.*112C>G
NR_038133.2:n.1360C>G