Canonical Allele Identifier: CA349341868

Gene: CHN1

Linked Data

• dbSNP Id: rs1341514965
• gnomAD v2: 2-175664855-T-G
• gnomAD v3: 2-174800127-T-G
• gnomAD v4: 2-174800127-T-G
• MyVariant Identifiers: chr2:g.175664855T>G (hg19) ; chr2:g.174800127T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800127T>G , CM000664.2:g.174800127T>G	GRCh38
NC_000002.11:g.175664855T>G , CM000664.1:g.175664855T>G	GRCh37
NC_000002.10:g.175373101T>G	NCBI36
NG_012642.1:g.210316A>C
NG_012642.2:g.210316A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.994A>C	ENSP00000295497.7:p.Ile332Leu
ENST00000295497.12:c.994A>C	ENSP00000295497.7:p.Ile332Leu
ENST00000409900.9:c.1369A>C MANE Select	ENSP00000386741.4:p.Ile457Leu
ENST00000413882.6:c.823A>C	ENSP00000410496.2:p.Ile275Leu
ENST00000443238.6:c.847A>C	ENSP00000409798.2:p.Ile283Leu
ENST00000488080.6:n.1012A>C
ENST00000650731.1:c.694A>C	ENSP00000499146.1:p.Ile232Leu
ENST00000650938.1:c.755A>C
ENST00000651246.1:c.961A>C	ENSP00000498484.1:p.Ile321Leu
ENST00000651501.1:c.*816A>C	ENSP00000498894.1:n.*816A>C
ENST00000651717.1:c.*645A>C	ENSP00000499124.1:n.*645A>C
ENST00000652036.1:c.1045A>C	ENSP00000499139.1:p.Ile349Leu
ENST00000295497.11:c.994A>C	ENSP00000295497.7:p.Ile332Leu
ENST00000409156.7:c.1291A>C	ENSP00000386470.3:p.Ile431Leu
ENST00000409597.5:c.817A>C	ENSP00000386469.1:p.Ile273Leu
ENST00000409900.7:c.1369A>C	ENSP00000386741.3:p.Ile457Leu
ENST00000488080.5:n.1220A>C
ENST00000492964.1:n.512A>C
NM_001025201.3:c.1291A>C	NP_001020372.2:p.Ile431Leu
NM_001206602.1:c.994A>C	NP_001193531.1:p.Ile332Leu
NM_001822.5:c.1369A>C	NP_001813.1:p.Ile457Leu
NR_038133.1:n.1235A>C
NM_001025201.4:c.1291A>C	NP_001020372.2:p.Ile431Leu
NM_001206602.2:c.994A>C	NP_001193531.1:p.Ile332Leu
NM_001371513.1:c.1369A>C	NP_001358442.1:p.Ile457Leu
NM_001371514.1:c.1420A>C	NP_001358443.1:p.Ile474Leu
NM_001822.7:c.1369A>C MANE Select	NP_001813.1:p.Ile457Leu
NR_038133.2:n.1237A>C