Canonical Allele Identifier: CA349341921

Gene: CHN1

Linked Data

• dbSNP Id: rs1381863202
• gnomAD v2: 2-175664866-T-C
• gnomAD v3: 2-174800138-T-C
• gnomAD v4: 2-174800138-T-C
• MyVariant Identifiers: chr2:g.175664866T>C (hg19) ; chr2:g.174800138T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800138T>C , CM000664.2:g.174800138T>C	GRCh38
NC_000002.11:g.175664866T>C , CM000664.1:g.175664866T>C	GRCh37
NC_000002.10:g.175373112T>C	NCBI36
NG_012642.1:g.210305A>G
NG_012642.2:g.210305A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.983A>G	ENSP00000295497.7:p.Lys328Arg
ENST00000295497.12:c.983A>G	ENSP00000295497.7:p.Lys328Arg
ENST00000409900.9:c.1358A>G MANE Select	ENSP00000386741.4:p.Lys453Arg
ENST00000413882.6:c.812A>G	ENSP00000410496.2:p.Lys271Arg
ENST00000443238.6:c.836A>G	ENSP00000409798.2:p.Lys279Arg
ENST00000488080.6:n.1001A>G
ENST00000650731.1:c.683A>G	ENSP00000499146.1:p.Lys228Arg
ENST00000650938.1:c.744A>G
ENST00000651246.1:c.950A>G	ENSP00000498484.1:p.Lys317Arg
ENST00000651501.1:c.*805A>G	ENSP00000498894.1:n.*805A>G
ENST00000651717.1:c.*634A>G	ENSP00000499124.1:n.*634A>G
ENST00000652036.1:c.1034A>G	ENSP00000499139.1:p.Lys345Arg
ENST00000295497.11:c.983A>G	ENSP00000295497.7:p.Lys328Arg
ENST00000409156.7:c.1280A>G	ENSP00000386470.3:p.Lys427Arg
ENST00000409597.5:c.806A>G	ENSP00000386469.1:p.Lys269Arg
ENST00000409900.7:c.1358A>G	ENSP00000386741.3:p.Lys453Arg
ENST00000488080.5:n.1209A>G
ENST00000492964.1:n.501A>G
NM_001025201.3:c.1280A>G	NP_001020372.2:p.Lys427Arg
NM_001206602.1:c.983A>G	NP_001193531.1:p.Lys328Arg
NM_001822.5:c.1358A>G	NP_001813.1:p.Lys453Arg
NR_038133.1:n.1224A>G
NM_001025201.4:c.1280A>G	NP_001020372.2:p.Lys427Arg
NM_001206602.2:c.983A>G	NP_001193531.1:p.Lys328Arg
NM_001371513.1:c.1358A>G	NP_001358442.1:p.Lys453Arg
NM_001371514.1:c.1409A>G	NP_001358443.1:p.Lys470Arg
NM_001822.7:c.1358A>G MANE Select	NP_001813.1:p.Lys453Arg
NR_038133.2:n.1226A>G