Canonical Allele Identifier: CA349342721

Gene: CHN1

Linked Data

• dbSNP Id: rs751836428
• gnomAD v2: 2-175665007-A-C
• gnomAD v3: 2-174800279-A-C
• gnomAD v4: 2-174800279-A-C
• MyVariant Identifiers: chr2:g.175665007A>C (hg19) ; chr2:g.174800279A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800279A>C , CM000664.2:g.174800279A>C	GRCh38
NC_000002.11:g.175665007A>C , CM000664.1:g.175665007A>C	GRCh37
NC_000002.10:g.175373253A>C	NCBI36
NG_012642.1:g.210164T>G
NG_012642.2:g.210164T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.842T>G	ENSP00000295497.7:p.Leu281Arg
ENST00000295497.12:c.842T>G	ENSP00000295497.7:p.Leu281Arg
ENST00000409089.7:c.593T>G	ENSP00000386322.3:p.Leu198Arg
ENST00000409900.9:c.1217T>G MANE Select	ENSP00000386741.4:p.Leu406Arg
ENST00000413882.6:c.671T>G	ENSP00000410496.2:p.Leu224Arg
ENST00000443238.6:c.695T>G	ENSP00000409798.2:p.Leu232Arg
ENST00000488080.6:n.860T>G
ENST00000650731.1:c.542T>G	ENSP00000499146.1:p.Leu181Arg
ENST00000650938.1:c.603T>G
ENST00000651246.1:c.809T>G	ENSP00000498484.1:p.Leu270Arg
ENST00000651501.1:c.*664T>G	ENSP00000498894.1:n.*664T>G
ENST00000651717.1:c.*493T>G	ENSP00000499124.1:n.*493T>G
ENST00000652036.1:c.893T>G	ENSP00000499139.1:p.Leu298Arg
ENST00000295497.11:c.842T>G	ENSP00000295497.7:p.Leu281Arg
ENST00000409156.7:c.1139T>G	ENSP00000386470.3:p.Leu380Arg
ENST00000409597.5:c.665T>G	ENSP00000386469.1:p.Leu222Arg
ENST00000409900.7:c.1217T>G	ENSP00000386741.3:p.Leu406Arg
ENST00000488080.5:n.1068T>G
ENST00000492964.1:n.360T>G
NM_001025201.3:c.1139T>G	NP_001020372.2:p.Leu380Arg
NM_001206602.1:c.842T>G	NP_001193531.1:p.Leu281Arg
NM_001822.5:c.1217T>G	NP_001813.1:p.Leu406Arg
NR_038133.1:n.1083T>G
NM_001025201.4:c.1139T>G	NP_001020372.2:p.Leu380Arg
NM_001206602.2:c.842T>G	NP_001193531.1:p.Leu281Arg
NM_001371513.1:c.1217T>G	NP_001358442.1:p.Leu406Arg
NM_001371514.1:c.1268T>G	NP_001358443.1:p.Leu423Arg
NM_001822.7:c.1217T>G MANE Select	NP_001813.1:p.Leu406Arg
NR_038133.2:n.1085T>G