Canonical Allele Identifier: CA1308854824

Gene: CHN1

Linked Data

• dbSNP Id: rs1684667684
• gnomAD v4: 2-174800009-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800009A>G , CM000664.2:g.174800009A>G	GRCh38
NC_000002.11:g.175664737A>G , CM000664.1:g.175664737A>G	GRCh37
NC_000002.10:g.175372983A>G	NCBI36
NG_012642.1:g.210434T>C
NG_012642.2:g.210434T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*107T>C	ENSP00000295497.7:n.*107T>C
ENST00000295497.12:c.*107T>C	ENSP00000295497.7:n.*107T>C
ENST00000409900.9:c.*107T>C MANE Select	ENSP00000386741.4:n.*107T>C
ENST00000413882.6:c.*107T>C	ENSP00000410496.2:n.*107T>C
ENST00000443238.6:c.*107T>C	ENSP00000409798.2:n.*107T>C
ENST00000488080.6:n.1130T>C
ENST00000650731.1:c.*107T>C	ENSP00000499146.1:n.*107T>C
ENST00000650938.1:c.873T>C
ENST00000651246.1:c.*107T>C	ENSP00000498484.1:n.*107T>C
ENST00000651501.1:c.*934T>C	ENSP00000498894.1:n.*934T>C
ENST00000651717.1:c.*763T>C	ENSP00000499124.1:n.*763T>C
ENST00000652036.1:c.*107T>C	ENSP00000499139.1:n.*107T>C
ENST00000295497.11:c.*107T>C	ENSP00000295497.7:n.*107T>C
ENST00000409156.7:c.*107T>C	ENSP00000386470.3:n.*107T>C
ENST00000409597.5:c.*107T>C	ENSP00000386469.1:n.*107T>C
ENST00000409900.7:c.*107T>C	ENSP00000386741.3:n.*107T>C
ENST00000488080.5:n.1338T>C
ENST00000492964.1:n.630T>C
NM_001025201.3:c.*107T>C	NP_001020372.2:n.*107T>C
NM_001206602.1:c.*107T>C	NP_001193531.1:n.*107T>C
NM_001822.5:c.*107T>C	NP_001813.1:n.*107T>C
NR_038133.1:n.1353T>C
NM_001025201.4:c.*107T>C	NP_001020372.2:n.*107T>C
NM_001206602.2:c.*107T>C	NP_001193531.1:n.*107T>C
NM_001371513.1:c.*107T>C	NP_001358442.1:n.*107T>C
NM_001371514.1:c.*107T>C	NP_001358443.1:n.*107T>C
NM_001822.7:c.*107T>C MANE Select	NP_001813.1:n.*107T>C
NR_038133.2:n.1355T>C