Canonical Allele Identifier: CA2662022069

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800427-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800427T>G , CM000664.2:g.174800427T>G	GRCh38
NC_000002.11:g.175665155T>G , CM000664.1:g.175665155T>G	GRCh37
NC_000002.10:g.175373401T>G	NCBI36
NG_012642.1:g.210016A>C
NG_012642.2:g.210016A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.834-140A>C	ENSP00000295497.7:n.834-140A>C
ENST00000444394.7:c.963-140A>C	ENSP00000411911.2:n.963-140A>C
ENST00000295497.12:c.834-140A>C	ENSP00000295497.7:n.834-140A>C
ENST00000409089.7:c.585-140A>C	ENSP00000386322.3:n.585-140A>C
ENST00000409900.9:c.1209-140A>C MANE Select	ENSP00000386741.4:n.1209-140A>C
ENST00000413882.6:c.663-140A>C	ENSP00000410496.2:n.663-140A>C
ENST00000443238.6:c.687-140A>C	ENSP00000409798.2:n.687-140A>C
ENST00000444394.6:c.963-140A>C	ENSP00000411911.2:n.963-140A>C
ENST00000488080.6:n.852-140A>C
ENST00000650731.1:c.534-140A>C	ENSP00000499146.1:n.534-140A>C
ENST00000650938.1:c.595-140A>C
ENST00000651246.1:c.801-140A>C	ENSP00000498484.1:n.801-140A>C
ENST00000651501.1:c.*656-140A>C	ENSP00000498894.1:n.*656-140A>C
ENST00000651717.1:c.*485-140A>C	ENSP00000499124.1:n.*485-140A>C
ENST00000652036.1:c.885-140A>C	ENSP00000499139.1:n.885-140A>C
ENST00000295497.11:c.834-140A>C	ENSP00000295497.7:n.834-140A>C
ENST00000409156.7:c.1131-140A>C	ENSP00000386470.3:n.1131-140A>C
ENST00000409597.5:c.657-140A>C	ENSP00000386469.1:n.657-140A>C
ENST00000409900.7:c.1209-140A>C	ENSP00000386741.3:n.1209-140A>C
ENST00000488080.5:n.1060-140A>C
ENST00000492964.1:n.352-140A>C
NM_001025201.3:c.1131-140A>C	NP_001020372.2:n.1131-140A>C
NM_001206602.1:c.834-140A>C	NP_001193531.1:n.834-140A>C
NM_001822.5:c.1209-140A>C	NP_001813.1:n.1209-140A>C
NR_038133.1:n.1075-140A>C
NM_001025201.4:c.1131-140A>C	NP_001020372.2:n.1131-140A>C
NM_001206602.2:c.834-140A>C	NP_001193531.1:n.834-140A>C
NM_001371513.1:c.1209-140A>C	NP_001358442.1:n.1209-140A>C
NM_001371514.1:c.1260-140A>C	NP_001358443.1:n.1260-140A>C
NM_001822.7:c.1209-140A>C MANE Select	NP_001813.1:n.1209-140A>C
NR_038133.2:n.1077-140A>C