Canonical Allele Identifier: CA537762531

Gene: CHN1

Linked Data

• dbSNP Id: rs1262879686
• gnomAD v2: 2-175664714-T-G
• gnomAD v4: 2-174799986-T-G
• MyVariant Identifiers: chr2:g.175664714T>G (hg19) ; chr2:g.174799986T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799986T>G , CM000664.2:g.174799986T>G	GRCh38
NC_000002.11:g.175664714T>G , CM000664.1:g.175664714T>G	GRCh37
NC_000002.10:g.175372960T>G	NCBI36
NG_012642.1:g.210457A>C
NG_012642.2:g.210457A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*130A>C	ENSP00000295497.7:n.*130A>C
ENST00000295497.12:c.*130A>C	ENSP00000295497.7:n.*130A>C
ENST00000409900.9:c.*130A>C MANE Select	ENSP00000386741.4:n.*130A>C
ENST00000413882.6:c.*130A>C	ENSP00000410496.2:n.*130A>C
ENST00000443238.6:c.*130A>C	ENSP00000409798.2:n.*130A>C
ENST00000488080.6:n.1153A>C
ENST00000650731.1:c.*130A>C	ENSP00000499146.1:n.*130A>C
ENST00000650938.1:c.896A>C
ENST00000651246.1:c.*130A>C	ENSP00000498484.1:n.*130A>C
ENST00000651501.1:c.*957A>C	ENSP00000498894.1:n.*957A>C
ENST00000651717.1:c.*786A>C	ENSP00000499124.1:n.*786A>C
ENST00000652036.1:c.*130A>C	ENSP00000499139.1:n.*130A>C
ENST00000295497.11:c.*130A>C	ENSP00000295497.7:n.*130A>C
ENST00000409597.5:c.*130A>C	ENSP00000386469.1:n.*130A>C
ENST00000409900.7:c.*130A>C	ENSP00000386741.3:n.*130A>C
ENST00000488080.5:n.1361A>C
ENST00000492964.1:n.653A>C
NM_001025201.3:c.*130A>C	NP_001020372.2:n.*130A>C
NM_001206602.1:c.*130A>C	NP_001193531.1:n.*130A>C
NM_001822.5:c.*130A>C	NP_001813.1:n.*130A>C
NR_038133.1:n.1376A>C
NM_001025201.4:c.*130A>C	NP_001020372.2:n.*130A>C
NM_001206602.2:c.*130A>C	NP_001193531.1:n.*130A>C
NM_001371513.1:c.*130A>C	NP_001358442.1:n.*130A>C
NM_001371514.1:c.*130A>C	NP_001358443.1:n.*130A>C
NM_001822.7:c.*130A>C MANE Select	NP_001813.1:n.*130A>C
NR_038133.2:n.1378A>C