Canonical Allele Identifier: CA1974786

Gene: CHN1

Linked Data

• dbSNP Id: rs570521852
• ExAC: 2:175664963 C / T
• gnomAD v2: 2-175664963-C-T
• gnomAD v3: 2-174800235-C-T
• gnomAD v4: 2-174800235-C-T
• COSMIC: COSM5042964 ; COSM5042965
• MyVariant Identifiers: chr2:g.175664963C>T (hg19) ; chr2:g.174800235C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800235C>T , CM000664.2:g.174800235C>T	GRCh38
NC_000002.11:g.175664963C>T , CM000664.1:g.175664963C>T	GRCh37
NC_000002.10:g.175373209C>T	NCBI36
NG_012642.1:g.210208G>A
NG_012642.2:g.210208G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.886G>A	ENSP00000295497.7:p.Val296Ile
ENST00000295497.12:c.886G>A	ENSP00000295497.7:p.Val296Ile
ENST00000409900.9:c.1261G>A MANE Select	ENSP00000386741.4:p.Val421Ile
ENST00000413882.6:c.715G>A	ENSP00000410496.2:p.Val239Ile
ENST00000443238.6:c.739G>A	ENSP00000409798.2:p.Val247Ile
ENST00000488080.6:n.904G>A
ENST00000650731.1:c.586G>A	ENSP00000499146.1:p.Val196Ile
ENST00000650938.1:c.647G>A
ENST00000651246.1:c.853G>A	ENSP00000498484.1:p.Val285Ile
ENST00000651501.1:c.*708G>A	ENSP00000498894.1:n.*708G>A
ENST00000651717.1:c.*537G>A	ENSP00000499124.1:n.*537G>A
ENST00000652036.1:c.937G>A	ENSP00000499139.1:p.Val313Ile
ENST00000295497.11:c.886G>A	ENSP00000295497.7:p.Val296Ile
ENST00000409156.7:c.1183G>A	ENSP00000386470.3:p.Val395Ile
ENST00000409597.5:c.709G>A	ENSP00000386469.1:p.Val237Ile
ENST00000409900.7:c.1261G>A	ENSP00000386741.3:p.Val421Ile
ENST00000488080.5:n.1112G>A
ENST00000492964.1:n.404G>A
NM_001025201.3:c.1183G>A	NP_001020372.2:p.Val395Ile
NM_001206602.1:c.886G>A	NP_001193531.1:p.Val296Ile
NM_001822.5:c.1261G>A	NP_001813.1:p.Val421Ile
NR_038133.1:n.1127G>A
NM_001025201.4:c.1183G>A	NP_001020372.2:p.Val395Ile
NM_001206602.2:c.886G>A	NP_001193531.1:p.Val296Ile
NM_001371513.1:c.1261G>A	NP_001358442.1:p.Val421Ile
NM_001371514.1:c.1312G>A	NP_001358443.1:p.Val438Ile
NM_001822.7:c.1261G>A MANE Select	NP_001813.1:p.Val421Ile
NR_038133.2:n.1129G>A