Canonical Allele Identifier: CA349341859

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800126-A-C
• MyVariant Identifiers: chr2:g.175664854A>C (hg19) ; chr2:g.174800126A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800126A>C , CM000664.2:g.174800126A>C	GRCh38
NC_000002.11:g.175664854A>C , CM000664.1:g.175664854A>C	GRCh37
NC_000002.10:g.175373100A>C	NCBI36
NG_012642.1:g.210317T>G
NG_012642.2:g.210317T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.995T>G	ENSP00000295497.7:p.Ile332Ser
ENST00000295497.12:c.995T>G	ENSP00000295497.7:p.Ile332Ser
ENST00000409900.9:c.1370T>G MANE Select	ENSP00000386741.4:p.Ile457Ser
ENST00000413882.6:c.824T>G	ENSP00000410496.2:p.Ile275Ser
ENST00000443238.6:c.848T>G	ENSP00000409798.2:p.Ile283Ser
ENST00000488080.6:n.1013T>G
ENST00000650731.1:c.695T>G	ENSP00000499146.1:p.Ile232Ser
ENST00000650938.1:c.756T>G
ENST00000651246.1:c.962T>G	ENSP00000498484.1:p.Ile321Ser
ENST00000651501.1:c.*817T>G	ENSP00000498894.1:n.*817T>G
ENST00000651717.1:c.*646T>G	ENSP00000499124.1:n.*646T>G
ENST00000652036.1:c.1046T>G	ENSP00000499139.1:p.Ile349Ser
ENST00000295497.11:c.995T>G	ENSP00000295497.7:p.Ile332Ser
ENST00000409156.7:c.1292T>G	ENSP00000386470.3:p.Ile431Ser
ENST00000409597.5:c.818T>G	ENSP00000386469.1:p.Ile273Ser
ENST00000409900.7:c.1370T>G	ENSP00000386741.3:p.Ile457Ser
ENST00000488080.5:n.1221T>G
ENST00000492964.1:n.513T>G
NM_001025201.3:c.1292T>G	NP_001020372.2:p.Ile431Ser
NM_001206602.1:c.995T>G	NP_001193531.1:p.Ile332Ser
NM_001822.5:c.1370T>G	NP_001813.1:p.Ile457Ser
NR_038133.1:n.1236T>G
NM_001025201.4:c.1292T>G	NP_001020372.2:p.Ile431Ser
NM_001206602.2:c.995T>G	NP_001193531.1:p.Ile332Ser
NM_001371513.1:c.1370T>G	NP_001358442.1:p.Ile457Ser
NM_001371514.1:c.1421T>G	NP_001358443.1:p.Ile474Ser
NM_001822.7:c.1370T>G MANE Select	NP_001813.1:p.Ile457Ser
NR_038133.2:n.1238T>G