Canonical Allele Identifier: CA349347780

Gene: CHN1

Linked Data

• dbSNP Id: rs1188037570
• gnomAD v2: 2-175689198-T-G
• gnomAD v4: 2-174824470-T-G
• MyVariant Identifiers: chr2:g.175689198T>G (hg19) ; chr2:g.174824470T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824470T>G , CM000664.2:g.174824470T>G	GRCh38
NC_000002.11:g.175689198T>G , CM000664.1:g.175689198T>G	GRCh37
NC_000002.10:g.175397444T>G	NCBI36
NG_012642.1:g.185973A>C
NG_012642.2:g.185973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.301A>C	ENSP00000295497.7:p.Met101Leu
ENST00000444394.7:c.301A>C	ENSP00000411911.2:p.Met101Leu
ENST00000295497.12:c.301A>C	ENSP00000295497.7:p.Met101Leu
ENST00000409089.7:c.1A>C	ENSP00000386322.3:p.Met1Leu
ENST00000409900.9:c.676A>C MANE Select	ENSP00000386741.4:p.Met226Leu
ENST00000413882.6:c.130A>C	ENSP00000410496.2:p.Met44Leu
ENST00000425395.6:c.*123A>C	ENSP00000405270.2:n.*123A>C
ENST00000443238.6:c.154A>C	ENSP00000409798.2:p.Met52Leu
ENST00000444394.6:c.301A>C	ENSP00000411911.2:p.Met101Leu
ENST00000444573.2:c.520A>C	ENSP00000392603.2:p.Met174Leu
ENST00000488080.6:n.319A>C
ENST00000650731.1:c.1A>C	ENSP00000499146.1:p.Met1Leu
ENST00000650938.1:c.200A>C
ENST00000651246.1:c.268A>C	ENSP00000498484.1:p.Met90Leu
ENST00000651373.1:c.190A>C	ENSP00000499174.1:p.Met64Leu
ENST00000651501.1:c.*123A>C	ENSP00000498894.1:n.*123A>C
ENST00000651717.1:c.253-11988A>C	ENSP00000499124.1:n.253-11988A>C
ENST00000652036.1:c.301A>C	ENSP00000499139.1:p.Met101Leu
ENST00000652154.1:n.574A>C
ENST00000295497.11:c.301A>C	ENSP00000295497.7:p.Met101Leu
ENST00000409089.6:c.1A>C	ENSP00000386322.2:p.Met1Leu
ENST00000409156.7:c.598A>C	ENSP00000386470.3:p.Met200Leu
ENST00000409597.5:c.124A>C	ENSP00000386469.1:p.Met42Leu
ENST00000409900.7:c.676A>C	ENSP00000386741.3:p.Met226Leu
ENST00000413882.5:c.130A>C	ENSP00000410496.1:p.Met44Leu
ENST00000425395.5:c.*227A>C	ENSP00000405270.1:n.*227A>C
ENST00000443238.5:c.154A>C	ENSP00000409798.1:p.Met52Leu
ENST00000444394.5:c.1A>C	ENSP00000411911.1:p.Met1Leu
ENST00000444573.1:c.301A>C	ENSP00000392603.1:p.Met101Leu
ENST00000485882.1:n.135A>C
ENST00000488080.5:n.527A>C
NM_001025201.3:c.598A>C	NP_001020372.2:p.Met200Leu
NM_001206602.1:c.301A>C	NP_001193531.1:p.Met101Leu
NM_001822.5:c.676A>C	NP_001813.1:p.Met226Leu
NR_038133.1:n.542A>C
NM_001025201.4:c.598A>C	NP_001020372.2:p.Met200Leu
NM_001206602.2:c.301A>C	NP_001193531.1:p.Met101Leu
NM_001371513.1:c.676A>C	NP_001358442.1:p.Met226Leu
NM_001371514.1:c.727A>C	NP_001358443.1:p.Met243Leu
NM_001822.7:c.676A>C MANE Select	NP_001813.1:p.Met226Leu
NR_038133.2:n.544A>C