Canonical Allele Identifier: CA2662021957

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800035-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800035A>G , CM000664.2:g.174800035A>G	GRCh38
NC_000002.11:g.175664763A>G , CM000664.1:g.175664763A>G	GRCh37
NC_000002.10:g.175373009A>G	NCBI36
NG_012642.1:g.210408T>C
NG_012642.2:g.210408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*81T>C	ENSP00000295497.7:n.*81T>C
ENST00000295497.12:c.*81T>C	ENSP00000295497.7:n.*81T>C
ENST00000409900.9:c.*81T>C MANE Select	ENSP00000386741.4:n.*81T>C
ENST00000413882.6:c.*81T>C	ENSP00000410496.2:n.*81T>C
ENST00000443238.6:c.*81T>C	ENSP00000409798.2:n.*81T>C
ENST00000488080.6:n.1104T>C
ENST00000650731.1:c.*81T>C	ENSP00000499146.1:n.*81T>C
ENST00000650938.1:c.847T>C
ENST00000651246.1:c.*81T>C	ENSP00000498484.1:n.*81T>C
ENST00000651501.1:c.*908T>C	ENSP00000498894.1:n.*908T>C
ENST00000651717.1:c.*737T>C	ENSP00000499124.1:n.*737T>C
ENST00000652036.1:c.*81T>C	ENSP00000499139.1:n.*81T>C
ENST00000295497.11:c.*81T>C	ENSP00000295497.7:n.*81T>C
ENST00000409156.7:c.*81T>C	ENSP00000386470.3:n.*81T>C
ENST00000409597.5:c.*81T>C	ENSP00000386469.1:n.*81T>C
ENST00000409900.7:c.*81T>C	ENSP00000386741.3:n.*81T>C
ENST00000488080.5:n.1312T>C
ENST00000492964.1:n.604T>C
NM_001025201.3:c.*81T>C	NP_001020372.2:n.*81T>C
NM_001206602.1:c.*81T>C	NP_001193531.1:n.*81T>C
NM_001822.5:c.*81T>C	NP_001813.1:n.*81T>C
NR_038133.1:n.1327T>C
NM_001025201.4:c.*81T>C	NP_001020372.2:n.*81T>C
NM_001206602.2:c.*81T>C	NP_001193531.1:n.*81T>C
NM_001371513.1:c.*81T>C	NP_001358442.1:n.*81T>C
NM_001371514.1:c.*81T>C	NP_001358443.1:n.*81T>C
NM_001822.7:c.*81T>C MANE Select	NP_001813.1:n.*81T>C
NR_038133.2:n.1329T>C