Canonical Allele Identifier: CA349342571

Gene: CHN1

Linked Data

• dbSNP Id: rs1454858446
• gnomAD v4: 2-174800258-A-G
• MyVariant Identifiers: chr2:g.175664986A>G (hg19) ; chr2:g.174800258A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800258A>G , CM000664.2:g.174800258A>G	GRCh38
NC_000002.11:g.175664986A>G , CM000664.1:g.175664986A>G	GRCh37
NC_000002.10:g.175373232A>G	NCBI36
NG_012642.1:g.210185T>C
NG_012642.2:g.210185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.863T>C	ENSP00000295497.7:p.Met288Thr
ENST00000295497.12:c.863T>C	ENSP00000295497.7:p.Met288Thr
ENST00000409900.9:c.1238T>C MANE Select	ENSP00000386741.4:p.Met413Thr
ENST00000413882.6:c.692T>C	ENSP00000410496.2:p.Met231Thr
ENST00000443238.6:c.716T>C	ENSP00000409798.2:p.Met239Thr
ENST00000488080.6:n.881T>C
ENST00000650731.1:c.563T>C	ENSP00000499146.1:p.Met188Thr
ENST00000650938.1:c.624T>C
ENST00000651246.1:c.830T>C	ENSP00000498484.1:p.Met277Thr
ENST00000651501.1:c.*685T>C	ENSP00000498894.1:n.*685T>C
ENST00000651717.1:c.*514T>C	ENSP00000499124.1:n.*514T>C
ENST00000652036.1:c.914T>C	ENSP00000499139.1:p.Met305Thr
ENST00000295497.11:c.863T>C	ENSP00000295497.7:p.Met288Thr
ENST00000409156.7:c.1160T>C	ENSP00000386470.3:p.Met387Thr
ENST00000409597.5:c.686T>C	ENSP00000386469.1:p.Met229Thr
ENST00000409900.7:c.1238T>C	ENSP00000386741.3:p.Met413Thr
ENST00000488080.5:n.1089T>C
ENST00000492964.1:n.381T>C
NM_001025201.3:c.1160T>C	NP_001020372.2:p.Met387Thr
NM_001206602.1:c.863T>C	NP_001193531.1:p.Met288Thr
NM_001822.5:c.1238T>C	NP_001813.1:p.Met413Thr
NR_038133.1:n.1104T>C
NM_001025201.4:c.1160T>C	NP_001020372.2:p.Met387Thr
NM_001206602.2:c.863T>C	NP_001193531.1:p.Met288Thr
NM_001371513.1:c.1238T>C	NP_001358442.1:p.Met413Thr
NM_001371514.1:c.1289T>C	NP_001358443.1:p.Met430Thr
NM_001822.7:c.1238T>C MANE Select	NP_001813.1:p.Met413Thr
NR_038133.2:n.1106T>C