Canonical Allele Identifier: CA537762547

Gene: CHN1

Linked Data

• dbSNP Id: rs1393900417
• gnomAD v2: 2-175664800-T-A
• gnomAD v4: 2-174800072-T-A
• MyVariant Identifiers: chr2:g.175664800T>A (hg19) ; chr2:g.174800072T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800072T>A , CM000664.2:g.174800072T>A	GRCh38
NC_000002.11:g.175664800T>A , CM000664.1:g.175664800T>A	GRCh37
NC_000002.10:g.175373046T>A	NCBI36
NG_012642.1:g.210371A>T
NG_012642.2:g.210371A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*44A>T	ENSP00000295497.7:n.*44A>T
ENST00000295497.12:c.*44A>T	ENSP00000295497.7:n.*44A>T
ENST00000409900.9:c.*44A>T MANE Select	ENSP00000386741.4:n.*44A>T
ENST00000413882.6:c.*44A>T	ENSP00000410496.2:n.*44A>T
ENST00000443238.6:c.*44A>T	ENSP00000409798.2:n.*44A>T
ENST00000488080.6:n.1067A>T
ENST00000650731.1:c.*44A>T	ENSP00000499146.1:n.*44A>T
ENST00000650938.1:c.810A>T
ENST00000651246.1:c.*44A>T	ENSP00000498484.1:n.*44A>T
ENST00000651501.1:c.*871A>T	ENSP00000498894.1:n.*871A>T
ENST00000651717.1:c.*700A>T	ENSP00000499124.1:n.*700A>T
ENST00000652036.1:c.*44A>T	ENSP00000499139.1:n.*44A>T
ENST00000295497.11:c.*44A>T	ENSP00000295497.7:n.*44A>T
ENST00000409156.7:c.*44A>T	ENSP00000386470.3:n.*44A>T
ENST00000409597.5:c.*44A>T	ENSP00000386469.1:n.*44A>T
ENST00000409900.7:c.*44A>T	ENSP00000386741.3:n.*44A>T
ENST00000488080.5:n.1275A>T
ENST00000492964.1:n.567A>T
NM_001025201.3:c.*44A>T	NP_001020372.2:n.*44A>T
NM_001206602.1:c.*44A>T	NP_001193531.1:n.*44A>T
NM_001822.5:c.*44A>T	NP_001813.1:n.*44A>T
NR_038133.1:n.1290A>T
NM_001025201.4:c.*44A>T	NP_001020372.2:n.*44A>T
NM_001206602.2:c.*44A>T	NP_001193531.1:n.*44A>T
NM_001371513.1:c.*44A>T	NP_001358442.1:n.*44A>T
NM_001371514.1:c.*44A>T	NP_001358443.1:n.*44A>T
NM_001822.7:c.*44A>T MANE Select	NP_001813.1:n.*44A>T
NR_038133.2:n.1292A>T