Canonical Allele Identifier: CA349342122

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800175-T-C
• MyVariant Identifiers: chr2:g.175664903T>C (hg19) ; chr2:g.174800175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800175T>C , CM000664.2:g.174800175T>C	GRCh38
NC_000002.11:g.175664903T>C , CM000664.1:g.175664903T>C	GRCh37
NC_000002.10:g.175373149T>C	NCBI36
NG_012642.1:g.210268A>G
NG_012642.2:g.210268A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.946A>G	ENSP00000295497.7:p.Ile316Val
ENST00000295497.12:c.946A>G	ENSP00000295497.7:p.Ile316Val
ENST00000409900.9:c.1321A>G MANE Select	ENSP00000386741.4:p.Ile441Val
ENST00000413882.6:c.775A>G	ENSP00000410496.2:p.Ile259Val
ENST00000443238.6:c.799A>G	ENSP00000409798.2:p.Ile267Val
ENST00000488080.6:n.964A>G
ENST00000650731.1:c.646A>G	ENSP00000499146.1:p.Ile216Val
ENST00000650938.1:c.707A>G
ENST00000651246.1:c.913A>G	ENSP00000498484.1:p.Ile305Val
ENST00000651501.1:c.*768A>G	ENSP00000498894.1:n.*768A>G
ENST00000651717.1:c.*597A>G	ENSP00000499124.1:n.*597A>G
ENST00000652036.1:c.997A>G	ENSP00000499139.1:p.Ile333Val
ENST00000295497.11:c.946A>G	ENSP00000295497.7:p.Ile316Val
ENST00000409156.7:c.1243A>G	ENSP00000386470.3:p.Ile415Val
ENST00000409597.5:c.769A>G	ENSP00000386469.1:p.Ile257Val
ENST00000409900.7:c.1321A>G	ENSP00000386741.3:p.Ile441Val
ENST00000488080.5:n.1172A>G
ENST00000492964.1:n.464A>G
NM_001025201.3:c.1243A>G	NP_001020372.2:p.Ile415Val
NM_001206602.1:c.946A>G	NP_001193531.1:p.Ile316Val
NM_001822.5:c.1321A>G	NP_001813.1:p.Ile441Val
NR_038133.1:n.1187A>G
NM_001025201.4:c.1243A>G	NP_001020372.2:p.Ile415Val
NM_001206602.2:c.946A>G	NP_001193531.1:p.Ile316Val
NM_001371513.1:c.1321A>G	NP_001358442.1:p.Ile441Val
NM_001371514.1:c.1372A>G	NP_001358443.1:p.Ile458Val
NM_001822.7:c.1321A>G MANE Select	NP_001813.1:p.Ile441Val
NR_038133.2:n.1189A>G