Canonical Allele Identifier: CA430017209

Gene: CHN1

Linked Data

• ClinVar Variation Id: 722706
• ClinVar RCV Id: RCV000896380
• dbSNP Id: rs1326246983
• gnomAD v2: 2-175664925-G-A
• gnomAD v3: 2-174800197-G-A
• gnomAD v4: 2-174800197-G-A
• MyVariant Identifiers: chr2:g.175664925G>A (hg19) ; chr2:g.174800197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800197G>A , CM000664.2:g.174800197G>A	GRCh38
NC_000002.11:g.175664925G>A , CM000664.1:g.175664925G>A	GRCh37
NC_000002.10:g.175373171G>A	NCBI36
NG_012642.1:g.210246C>T
NG_012642.2:g.210246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.924C>T	ENSP00000295497.7:p.Asp308=
ENST00000295497.12:c.924C>T	ENSP00000295497.7:p.Asp308=
ENST00000409900.9:c.1299C>T MANE Select	ENSP00000386741.4:p.Asp433=
ENST00000413882.6:c.753C>T	ENSP00000410496.2:p.Asp251=
ENST00000443238.6:c.777C>T	ENSP00000409798.2:p.Asp259=
ENST00000488080.6:n.942C>T
ENST00000650731.1:c.624C>T	ENSP00000499146.1:p.Asp208=
ENST00000650938.1:c.685C>T
ENST00000651246.1:c.891C>T	ENSP00000498484.1:p.Asp297=
ENST00000651501.1:c.*746C>T	ENSP00000498894.1:n.*746C>T
ENST00000651717.1:c.*575C>T	ENSP00000499124.1:n.*575C>T
ENST00000652036.1:c.975C>T	ENSP00000499139.1:p.Asp325=
ENST00000295497.11:c.924C>T	ENSP00000295497.7:p.Asp308=
ENST00000409156.7:c.1221C>T	ENSP00000386470.3:p.Asp407=
ENST00000409597.5:c.747C>T	ENSP00000386469.1:p.Asp249=
ENST00000409900.7:c.1299C>T	ENSP00000386741.3:p.Asp433=
ENST00000488080.5:n.1150C>T
ENST00000492964.1:n.442C>T
NM_001025201.3:c.1221C>T	NP_001020372.2:p.Asp407=
NM_001206602.1:c.924C>T	NP_001193531.1:p.Asp308=
NM_001822.5:c.1299C>T	NP_001813.1:p.Asp433=
NR_038133.1:n.1165C>T
NM_001025201.4:c.1221C>T	NP_001020372.2:p.Asp407=
NM_001206602.2:c.924C>T	NP_001193531.1:p.Asp308=
NM_001371513.1:c.1299C>T	NP_001358442.1:p.Asp433=
NM_001371514.1:c.1350C>T	NP_001358443.1:p.Asp450=
NM_001822.7:c.1299C>T MANE Select	NP_001813.1:p.Asp433=
NR_038133.2:n.1167C>T