Canonical Allele Identifier: CA349342440

Gene: CHN1

Linked Data

• dbSNP Id: rs2105369068
• gnomAD v3: 2-174800238-T-G
• MyVariant Identifiers: chr2:g.175664966T>G (hg19) ; chr2:g.174800238T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800238T>G , CM000664.2:g.174800238T>G	GRCh38
NC_000002.11:g.175664966T>G , CM000664.1:g.175664966T>G	GRCh37
NC_000002.10:g.175373212T>G	NCBI36
NG_012642.1:g.210205A>C
NG_012642.2:g.210205A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.883A>C	ENSP00000295497.7:p.Ile295Leu
ENST00000295497.12:c.883A>C	ENSP00000295497.7:p.Ile295Leu
ENST00000409900.9:c.1258A>C MANE Select	ENSP00000386741.4:p.Ile420Leu
ENST00000413882.6:c.712A>C	ENSP00000410496.2:p.Ile238Leu
ENST00000443238.6:c.736A>C	ENSP00000409798.2:p.Ile246Leu
ENST00000488080.6:n.901A>C
ENST00000650731.1:c.583A>C	ENSP00000499146.1:p.Ile195Leu
ENST00000650938.1:c.644A>C
ENST00000651246.1:c.850A>C	ENSP00000498484.1:p.Ile284Leu
ENST00000651501.1:c.*705A>C	ENSP00000498894.1:n.*705A>C
ENST00000651717.1:c.*534A>C	ENSP00000499124.1:n.*534A>C
ENST00000652036.1:c.934A>C	ENSP00000499139.1:p.Ile312Leu
ENST00000295497.11:c.883A>C	ENSP00000295497.7:p.Ile295Leu
ENST00000409156.7:c.1180A>C	ENSP00000386470.3:p.Ile394Leu
ENST00000409597.5:c.706A>C	ENSP00000386469.1:p.Ile236Leu
ENST00000409900.7:c.1258A>C	ENSP00000386741.3:p.Ile420Leu
ENST00000488080.5:n.1109A>C
ENST00000492964.1:n.401A>C
NM_001025201.3:c.1180A>C	NP_001020372.2:p.Ile394Leu
NM_001206602.1:c.883A>C	NP_001193531.1:p.Ile295Leu
NM_001822.5:c.1258A>C	NP_001813.1:p.Ile420Leu
NR_038133.1:n.1124A>C
NM_001025201.4:c.1180A>C	NP_001020372.2:p.Ile394Leu
NM_001206602.2:c.883A>C	NP_001193531.1:p.Ile295Leu
NM_001371513.1:c.1258A>C	NP_001358442.1:p.Ile420Leu
NM_001371514.1:c.1309A>C	NP_001358443.1:p.Ile437Leu
NM_001822.7:c.1258A>C MANE Select	NP_001813.1:p.Ile420Leu
NR_038133.2:n.1126A>C