Canonical Allele Identifier: CA349342411

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800234-A-G
• MyVariant Identifiers: chr2:g.175664962A>G (hg19) ; chr2:g.174800234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800234A>G , CM000664.2:g.174800234A>G	GRCh38
NC_000002.11:g.175664962A>G , CM000664.1:g.175664962A>G	GRCh37
NC_000002.10:g.175373208A>G	NCBI36
NG_012642.1:g.210209T>C
NG_012642.2:g.210209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.887T>C	ENSP00000295497.7:p.Val296Ala
ENST00000295497.12:c.887T>C	ENSP00000295497.7:p.Val296Ala
ENST00000409900.9:c.1262T>C MANE Select	ENSP00000386741.4:p.Val421Ala
ENST00000413882.6:c.716T>C	ENSP00000410496.2:p.Val239Ala
ENST00000443238.6:c.740T>C	ENSP00000409798.2:p.Val247Ala
ENST00000488080.6:n.905T>C
ENST00000650731.1:c.587T>C	ENSP00000499146.1:p.Val196Ala
ENST00000650938.1:c.648T>C
ENST00000651246.1:c.854T>C	ENSP00000498484.1:p.Val285Ala
ENST00000651501.1:c.*709T>C	ENSP00000498894.1:n.*709T>C
ENST00000651717.1:c.*538T>C	ENSP00000499124.1:n.*538T>C
ENST00000652036.1:c.938T>C	ENSP00000499139.1:p.Val313Ala
ENST00000295497.11:c.887T>C	ENSP00000295497.7:p.Val296Ala
ENST00000409156.7:c.1184T>C	ENSP00000386470.3:p.Val395Ala
ENST00000409597.5:c.710T>C	ENSP00000386469.1:p.Val237Ala
ENST00000409900.7:c.1262T>C	ENSP00000386741.3:p.Val421Ala
ENST00000488080.5:n.1113T>C
ENST00000492964.1:n.405T>C
NM_001025201.3:c.1184T>C	NP_001020372.2:p.Val395Ala
NM_001206602.1:c.887T>C	NP_001193531.1:p.Val296Ala
NM_001822.5:c.1262T>C	NP_001813.1:p.Val421Ala
NR_038133.1:n.1128T>C
NM_001025201.4:c.1184T>C	NP_001020372.2:p.Val395Ala
NM_001206602.2:c.887T>C	NP_001193531.1:p.Val296Ala
NM_001371513.1:c.1262T>C	NP_001358442.1:p.Val421Ala
NM_001371514.1:c.1313T>C	NP_001358443.1:p.Val438Ala
NM_001822.7:c.1262T>C MANE Select	NP_001813.1:p.Val421Ala
NR_038133.2:n.1130T>C