Canonical Allele Identifier: CA349342321

Gene: CHN1

Linked Data

• dbSNP Id: rs1488594270
• gnomAD v2: 2-175664945-T-C
• gnomAD v3: 2-174800217-T-C
• gnomAD v4: 2-174800217-T-C
• MyVariant Identifiers: chr2:g.175664945T>C (hg19) ; chr2:g.174800217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800217T>C , CM000664.2:g.174800217T>C	GRCh38
NC_000002.11:g.175664945T>C , CM000664.1:g.175664945T>C	GRCh37
NC_000002.10:g.175373191T>C	NCBI36
NG_012642.1:g.210226A>G
NG_012642.2:g.210226A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.904A>G	ENSP00000295497.7:p.Met302Val
ENST00000295497.12:c.904A>G	ENSP00000295497.7:p.Met302Val
ENST00000409900.9:c.1279A>G MANE Select	ENSP00000386741.4:p.Met427Val
ENST00000413882.6:c.733A>G	ENSP00000410496.2:p.Met245Val
ENST00000443238.6:c.757A>G	ENSP00000409798.2:p.Met253Val
ENST00000488080.6:n.922A>G
ENST00000650731.1:c.604A>G	ENSP00000499146.1:p.Met202Val
ENST00000650938.1:c.665A>G
ENST00000651246.1:c.871A>G	ENSP00000498484.1:p.Met291Val
ENST00000651501.1:c.*726A>G	ENSP00000498894.1:n.*726A>G
ENST00000651717.1:c.*555A>G	ENSP00000499124.1:n.*555A>G
ENST00000652036.1:c.955A>G	ENSP00000499139.1:p.Met319Val
ENST00000295497.11:c.904A>G	ENSP00000295497.7:p.Met302Val
ENST00000409156.7:c.1201A>G	ENSP00000386470.3:p.Met401Val
ENST00000409597.5:c.727A>G	ENSP00000386469.1:p.Met243Val
ENST00000409900.7:c.1279A>G	ENSP00000386741.3:p.Met427Val
ENST00000488080.5:n.1130A>G
ENST00000492964.1:n.422A>G
NM_001025201.3:c.1201A>G	NP_001020372.2:p.Met401Val
NM_001206602.1:c.904A>G	NP_001193531.1:p.Met302Val
NM_001822.5:c.1279A>G	NP_001813.1:p.Met427Val
NR_038133.1:n.1145A>G
NM_001025201.4:c.1201A>G	NP_001020372.2:p.Met401Val
NM_001206602.2:c.904A>G	NP_001193531.1:p.Met302Val
NM_001371513.1:c.1279A>G	NP_001358442.1:p.Met427Val
NM_001371514.1:c.1330A>G	NP_001358443.1:p.Met444Val
NM_001822.7:c.1279A>G MANE Select	NP_001813.1:p.Met427Val
NR_038133.2:n.1147A>G