Canonical Allele Identifier: CA349342357

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800225-G-T
• MyVariant Identifiers: chr2:g.175664953G>T (hg19) ; chr2:g.174800225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800225G>T , CM000664.2:g.174800225G>T	GRCh38
NC_000002.11:g.175664953G>T , CM000664.1:g.175664953G>T	GRCh37
NC_000002.10:g.175373199G>T	NCBI36
NG_012642.1:g.210218C>A
NG_012642.2:g.210218C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.896C>A	ENSP00000295497.7:p.Pro299His
ENST00000295497.12:c.896C>A	ENSP00000295497.7:p.Pro299His
ENST00000409900.9:c.1271C>A MANE Select	ENSP00000386741.4:p.Pro424His
ENST00000413882.6:c.725C>A	ENSP00000410496.2:p.Pro242His
ENST00000443238.6:c.749C>A	ENSP00000409798.2:p.Pro250His
ENST00000488080.6:n.914C>A
ENST00000650731.1:c.596C>A	ENSP00000499146.1:p.Pro199His
ENST00000650938.1:c.657C>A
ENST00000651246.1:c.863C>A	ENSP00000498484.1:p.Pro288His
ENST00000651501.1:c.*718C>A	ENSP00000498894.1:n.*718C>A
ENST00000651717.1:c.*547C>A	ENSP00000499124.1:n.*547C>A
ENST00000652036.1:c.947C>A	ENSP00000499139.1:p.Pro316His
ENST00000295497.11:c.896C>A	ENSP00000295497.7:p.Pro299His
ENST00000409156.7:c.1193C>A	ENSP00000386470.3:p.Pro398His
ENST00000409597.5:c.719C>A	ENSP00000386469.1:p.Pro240His
ENST00000409900.7:c.1271C>A	ENSP00000386741.3:p.Pro424His
ENST00000488080.5:n.1122C>A
ENST00000492964.1:n.414C>A
NM_001025201.3:c.1193C>A	NP_001020372.2:p.Pro398His
NM_001206602.1:c.896C>A	NP_001193531.1:p.Pro299His
NM_001822.5:c.1271C>A	NP_001813.1:p.Pro424His
NR_038133.1:n.1137C>A
NM_001025201.4:c.1193C>A	NP_001020372.2:p.Pro398His
NM_001206602.2:c.896C>A	NP_001193531.1:p.Pro299His
NM_001371513.1:c.1271C>A	NP_001358442.1:p.Pro424His
NM_001371514.1:c.1322C>A	NP_001358443.1:p.Pro441His
NM_001822.7:c.1271C>A MANE Select	NP_001813.1:p.Pro424His
NR_038133.2:n.1139C>A