Canonical Allele Identifier: CA2662022907

Gene: CHN1

Linked Data

• gnomAD v4: 2-174811439-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174811439C>A , CM000664.2:g.174811439C>A	GRCh38
NC_000002.11:g.175676167C>A , CM000664.1:g.175676167C>A	GRCh37
NC_000002.10:g.175384413C>A	NCBI36
NG_012642.1:g.199004G>T
NG_012642.2:g.199004G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.589+72G>T	ENSP00000295497.7:n.589+72G>T
ENST00000444394.7:c.589+72G>T	ENSP00000411911.2:n.589+72G>T
ENST00000295497.12:c.589+72G>T	ENSP00000295497.7:n.589+72G>T
ENST00000409089.7:c.340+72G>T	ENSP00000386322.3:n.340+72G>T
ENST00000409900.9:c.964+72G>T MANE Select	ENSP00000386741.4:n.964+72G>T
ENST00000413882.6:c.418+72G>T	ENSP00000410496.2:n.418+72G>T
ENST00000443238.6:c.442+72G>T	ENSP00000409798.2:n.442+72G>T
ENST00000444394.6:c.589+72G>T	ENSP00000411911.2:n.589+72G>T
ENST00000488080.6:n.607+72G>T
ENST00000650731.1:c.289+72G>T	ENSP00000499146.1:n.289+72G>T
ENST00000650938.1:c.488+72G>T
ENST00000651246.1:c.556+72G>T	ENSP00000498484.1:n.556+72G>T
ENST00000651501.1:c.*411+72G>T	ENSP00000498894.1:n.*411+72G>T
ENST00000651717.1:c.*240+72G>T	ENSP00000499124.1:n.*240+72G>T
ENST00000652036.1:c.640+72G>T	ENSP00000499139.1:n.640+72G>T
ENST00000295497.11:c.589+72G>T	ENSP00000295497.7:n.589+72G>T
ENST00000409089.6:c.340+72G>T	ENSP00000386322.2:n.340+72G>T
ENST00000409156.7:c.886+72G>T	ENSP00000386470.3:n.886+72G>T
ENST00000409597.5:c.412+72G>T	ENSP00000386469.1:n.412+72G>T
ENST00000409900.7:c.964+72G>T	ENSP00000386741.3:n.964+72G>T
ENST00000413882.5:c.418+72G>T	ENSP00000410496.1:n.418+72G>T
ENST00000443238.5:c.442+72G>T	ENSP00000409798.1:n.442+72G>T
ENST00000444394.5:c.289+72G>T	ENSP00000411911.1:n.289+72G>T
ENST00000488080.5:n.815+72G>T
ENST00000491801.1:n.195G>T
NM_001025201.3:c.886+72G>T	NP_001020372.2:n.886+72G>T
NM_001206602.1:c.589+72G>T	NP_001193531.1:n.589+72G>T
NM_001822.5:c.964+72G>T	NP_001813.1:n.964+72G>T
NR_038133.1:n.830+72G>T
NM_001025201.4:c.886+72G>T	NP_001020372.2:n.886+72G>T
NM_001206602.2:c.589+72G>T	NP_001193531.1:n.589+72G>T
NM_001371513.1:c.964+72G>T	NP_001358442.1:n.964+72G>T
NM_001371514.1:c.1015+72G>T	NP_001358443.1:n.1015+72G>T
NM_001822.7:c.964+72G>T MANE Select	NP_001813.1:n.964+72G>T
NR_038133.2:n.832+72G>T