Canonical Allele Identifier: CA349342620

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800264-T-G
• MyVariant Identifiers: chr2:g.175664992T>G (hg19) ; chr2:g.174800264T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800264T>G , CM000664.2:g.174800264T>G	GRCh38
NC_000002.11:g.175664992T>G , CM000664.1:g.175664992T>G	GRCh37
NC_000002.10:g.175373238T>G	NCBI36
NG_012642.1:g.210179A>C
NG_012642.2:g.210179A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.857A>C	ENSP00000295497.7:p.Asn286Thr
ENST00000295497.12:c.857A>C	ENSP00000295497.7:p.Asn286Thr
ENST00000409089.7:c.608A>C	ENSP00000386322.3:p.Asn203Thr
ENST00000409900.9:c.1232A>C MANE Select	ENSP00000386741.4:p.Asn411Thr
ENST00000413882.6:c.686A>C	ENSP00000410496.2:p.Asn229Thr
ENST00000443238.6:c.710A>C	ENSP00000409798.2:p.Asn237Thr
ENST00000488080.6:n.875A>C
ENST00000650731.1:c.557A>C	ENSP00000499146.1:p.Asn186Thr
ENST00000650938.1:c.618A>C
ENST00000651246.1:c.824A>C	ENSP00000498484.1:p.Asn275Thr
ENST00000651501.1:c.*679A>C	ENSP00000498894.1:n.*679A>C
ENST00000651717.1:c.*508A>C	ENSP00000499124.1:n.*508A>C
ENST00000652036.1:c.908A>C	ENSP00000499139.1:p.Asn303Thr
ENST00000295497.11:c.857A>C	ENSP00000295497.7:p.Asn286Thr
ENST00000409156.7:c.1154A>C	ENSP00000386470.3:p.Asn385Thr
ENST00000409597.5:c.680A>C	ENSP00000386469.1:p.Asn227Thr
ENST00000409900.7:c.1232A>C	ENSP00000386741.3:p.Asn411Thr
ENST00000488080.5:n.1083A>C
ENST00000492964.1:n.375A>C
NM_001025201.3:c.1154A>C	NP_001020372.2:p.Asn385Thr
NM_001206602.1:c.857A>C	NP_001193531.1:p.Asn286Thr
NM_001822.5:c.1232A>C	NP_001813.1:p.Asn411Thr
NR_038133.1:n.1098A>C
NM_001025201.4:c.1154A>C	NP_001020372.2:p.Asn385Thr
NM_001206602.2:c.857A>C	NP_001193531.1:p.Asn286Thr
NM_001371513.1:c.1232A>C	NP_001358442.1:p.Asn411Thr
NM_001371514.1:c.1283A>C	NP_001358443.1:p.Asn428Thr
NM_001822.7:c.1232A>C MANE Select	NP_001813.1:p.Asn411Thr
NR_038133.2:n.1100A>C