Canonical Allele Identifier: CA1039460660

Gene: CHN1

Linked Data

• dbSNP Id: rs1685071765
• gnomAD v3: 2-174811473-T-G
• gnomAD v4: 2-174811473-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174811473T>G , CM000664.2:g.174811473T>G	GRCh38
NC_000002.11:g.175676201T>G , CM000664.1:g.175676201T>G	GRCh37
NC_000002.10:g.175384447T>G	NCBI36
NG_012642.1:g.198970A>C
NG_012642.2:g.198970A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.589+38A>C	ENSP00000295497.7:n.589+38A>C
ENST00000444394.7:c.589+38A>C	ENSP00000411911.2:n.589+38A>C
ENST00000295497.12:c.589+38A>C	ENSP00000295497.7:n.589+38A>C
ENST00000409089.7:c.340+38A>C	ENSP00000386322.3:n.340+38A>C
ENST00000409900.9:c.964+38A>C MANE Select	ENSP00000386741.4:n.964+38A>C
ENST00000413882.6:c.418+38A>C	ENSP00000410496.2:n.418+38A>C
ENST00000443238.6:c.442+38A>C	ENSP00000409798.2:n.442+38A>C
ENST00000444394.6:c.589+38A>C	ENSP00000411911.2:n.589+38A>C
ENST00000488080.6:n.607+38A>C
ENST00000650731.1:c.289+38A>C	ENSP00000499146.1:n.289+38A>C
ENST00000650938.1:c.488+38A>C
ENST00000651246.1:c.556+38A>C	ENSP00000498484.1:n.556+38A>C
ENST00000651501.1:c.*411+38A>C	ENSP00000498894.1:n.*411+38A>C
ENST00000651717.1:c.*240+38A>C	ENSP00000499124.1:n.*240+38A>C
ENST00000652036.1:c.640+38A>C	ENSP00000499139.1:n.640+38A>C
ENST00000295497.11:c.589+38A>C	ENSP00000295497.7:n.589+38A>C
ENST00000409089.6:c.340+38A>C	ENSP00000386322.2:n.340+38A>C
ENST00000409156.7:c.886+38A>C	ENSP00000386470.3:n.886+38A>C
ENST00000409597.5:c.412+38A>C	ENSP00000386469.1:n.412+38A>C
ENST00000409900.7:c.964+38A>C	ENSP00000386741.3:n.964+38A>C
ENST00000413882.5:c.418+38A>C	ENSP00000410496.1:n.418+38A>C
ENST00000443238.5:c.442+38A>C	ENSP00000409798.1:n.442+38A>C
ENST00000444394.5:c.289+38A>C	ENSP00000411911.1:n.289+38A>C
ENST00000488080.5:n.815+38A>C
ENST00000491801.1:n.161A>C
NM_001025201.3:c.886+38A>C	NP_001020372.2:n.886+38A>C
NM_001206602.1:c.589+38A>C	NP_001193531.1:n.589+38A>C
NM_001822.5:c.964+38A>C	NP_001813.1:n.964+38A>C
NR_038133.1:n.830+38A>C
NM_001025201.4:c.886+38A>C	NP_001020372.2:n.886+38A>C
NM_001206602.2:c.589+38A>C	NP_001193531.1:n.589+38A>C
NM_001371513.1:c.964+38A>C	NP_001358442.1:n.964+38A>C
NM_001371514.1:c.1015+38A>C	NP_001358443.1:n.1015+38A>C
NM_001822.7:c.964+38A>C MANE Select	NP_001813.1:n.964+38A>C
NR_038133.2:n.832+38A>C