Canonical Allele Identifier: CA349342254

Gene: CHN1

Linked Data

• dbSNP Id: rs1217065454
• gnomAD v3: 2-174800202-G-C
• gnomAD v4: 2-174800202-G-C
• MyVariant Identifiers: chr2:g.175664930G>C (hg19) ; chr2:g.174800202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800202G>C , CM000664.2:g.174800202G>C	GRCh38
NC_000002.11:g.175664930G>C , CM000664.1:g.175664930G>C	GRCh37
NC_000002.10:g.175373176G>C	NCBI36
NG_012642.1:g.210241C>G
NG_012642.2:g.210241C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.919C>G	ENSP00000295497.7:p.Leu307Val
ENST00000295497.12:c.919C>G	ENSP00000295497.7:p.Leu307Val
ENST00000409900.9:c.1294C>G MANE Select	ENSP00000386741.4:p.Leu432Val
ENST00000413882.6:c.748C>G	ENSP00000410496.2:p.Leu250Val
ENST00000443238.6:c.772C>G	ENSP00000409798.2:p.Leu258Val
ENST00000488080.6:n.937C>G
ENST00000650731.1:c.619C>G	ENSP00000499146.1:p.Leu207Val
ENST00000650938.1:c.680C>G
ENST00000651246.1:c.886C>G	ENSP00000498484.1:p.Leu296Val
ENST00000651501.1:c.*741C>G	ENSP00000498894.1:n.*741C>G
ENST00000651717.1:c.*570C>G	ENSP00000499124.1:n.*570C>G
ENST00000652036.1:c.970C>G	ENSP00000499139.1:p.Leu324Val
ENST00000295497.11:c.919C>G	ENSP00000295497.7:p.Leu307Val
ENST00000409156.7:c.1216C>G	ENSP00000386470.3:p.Leu406Val
ENST00000409597.5:c.742C>G	ENSP00000386469.1:p.Leu248Val
ENST00000409900.7:c.1294C>G	ENSP00000386741.3:p.Leu432Val
ENST00000488080.5:n.1145C>G
ENST00000492964.1:n.437C>G
NM_001025201.3:c.1216C>G	NP_001020372.2:p.Leu406Val
NM_001206602.1:c.919C>G	NP_001193531.1:p.Leu307Val
NM_001822.5:c.1294C>G	NP_001813.1:p.Leu432Val
NR_038133.1:n.1160C>G
NM_001025201.4:c.1216C>G	NP_001020372.2:p.Leu406Val
NM_001206602.2:c.919C>G	NP_001193531.1:p.Leu307Val
NM_001371513.1:c.1294C>G	NP_001358442.1:p.Leu432Val
NM_001371514.1:c.1345C>G	NP_001358443.1:p.Leu449Val
NM_001822.7:c.1294C>G MANE Select	NP_001813.1:p.Leu432Val
NR_038133.2:n.1162C>G