Canonical Allele Identifier: CA60838046

Gene: CHN1

Linked Data

• dbSNP Id: rs375782530
• gnomAD v2: 2-175665008-G-C
• gnomAD v4: 2-174800280-G-C
• MyVariant Identifiers: chr2:g.175665008G>C (hg19) ; chr2:g.174800280G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800280G>C , CM000664.2:g.174800280G>C	GRCh38
NC_000002.11:g.175665008G>C , CM000664.1:g.175665008G>C	GRCh37
NC_000002.10:g.175373254G>C	NCBI36
NG_012642.1:g.210163C>G
NG_012642.2:g.210163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.841C>G	ENSP00000295497.7:p.Leu281Val
ENST00000295497.12:c.841C>G	ENSP00000295497.7:p.Leu281Val
ENST00000409089.7:c.592C>G	ENSP00000386322.3:p.Leu198Val
ENST00000409900.9:c.1216C>G MANE Select	ENSP00000386741.4:p.Leu406Val
ENST00000413882.6:c.670C>G	ENSP00000410496.2:p.Leu224Val
ENST00000443238.6:c.694C>G	ENSP00000409798.2:p.Leu232Val
ENST00000488080.6:n.859C>G
ENST00000650731.1:c.541C>G	ENSP00000499146.1:p.Leu181Val
ENST00000650938.1:c.602C>G
ENST00000651246.1:c.808C>G	ENSP00000498484.1:p.Leu270Val
ENST00000651501.1:c.*663C>G	ENSP00000498894.1:n.*663C>G
ENST00000651717.1:c.*492C>G	ENSP00000499124.1:n.*492C>G
ENST00000652036.1:c.892C>G	ENSP00000499139.1:p.Leu298Val
ENST00000295497.11:c.841C>G	ENSP00000295497.7:p.Leu281Val
ENST00000409156.7:c.1138C>G	ENSP00000386470.3:p.Leu380Val
ENST00000409597.5:c.664C>G	ENSP00000386469.1:p.Leu222Val
ENST00000409900.7:c.1216C>G	ENSP00000386741.3:p.Leu406Val
ENST00000488080.5:n.1067C>G
ENST00000492964.1:n.359C>G
NM_001025201.3:c.1138C>G	NP_001020372.2:p.Leu380Val
NM_001206602.1:c.841C>G	NP_001193531.1:p.Leu281Val
NM_001822.5:c.1216C>G	NP_001813.1:p.Leu406Val
NR_038133.1:n.1082C>G
NM_001025201.4:c.1138C>G	NP_001020372.2:p.Leu380Val
NM_001206602.2:c.841C>G	NP_001193531.1:p.Leu281Val
NM_001371513.1:c.1216C>G	NP_001358442.1:p.Leu406Val
NM_001371514.1:c.1267C>G	NP_001358443.1:p.Leu423Val
NM_001822.7:c.1216C>G MANE Select	NP_001813.1:p.Leu406Val
NR_038133.2:n.1084C>G