Canonical Allele Identifier: CA1974760

Gene: CHN1

Linked Data

• dbSNP Id: rs770225680
• ExAC: 2:175664584 G / A
• gnomAD v2: 2-175664584-G-A
• gnomAD v4: 2-174799856-G-A
• MyVariant Identifiers: chr2:g.175664584G>A (hg19) ; chr2:g.174799856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799856G>A , CM000664.2:g.174799856G>A	GRCh38
NC_000002.11:g.175664584G>A , CM000664.1:g.175664584G>A	GRCh37
NC_000002.10:g.175372830G>A	NCBI36
NG_012642.1:g.210587C>T
NG_012642.2:g.210587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*260C>T	ENSP00000295497.7:n.*260C>T
ENST00000295497.12:c.*260C>T	ENSP00000295497.7:n.*260C>T
ENST00000409900.9:c.*260C>T MANE Select	ENSP00000386741.4:n.*260C>T
ENST00000413882.6:c.*260C>T	ENSP00000410496.2:n.*260C>T
ENST00000443238.6:c.*260C>T	ENSP00000409798.2:n.*260C>T
ENST00000488080.6:n.1283C>T
ENST00000650731.1:c.*260C>T	ENSP00000499146.1:n.*260C>T
ENST00000650938.1:c.1026C>T
ENST00000651246.1:c.*260C>T	ENSP00000498484.1:n.*260C>T
ENST00000651501.1:c.*1087C>T	ENSP00000498894.1:n.*1087C>T
ENST00000651717.1:c.*916C>T	ENSP00000499124.1:n.*916C>T
ENST00000652036.1:c.*260C>T	ENSP00000499139.1:n.*260C>T
ENST00000295497.11:c.*260C>T	ENSP00000295497.7:n.*260C>T
ENST00000409597.5:c.*260C>T	ENSP00000386469.1:n.*260C>T
ENST00000409900.7:c.*260C>T	ENSP00000386741.3:n.*260C>T
ENST00000488080.5:n.1491C>T
NM_001025201.3:c.*260C>T	NP_001020372.2:n.*260C>T
NM_001206602.1:c.*260C>T	NP_001193531.1:n.*260C>T
NM_001822.5:c.*260C>T	NP_001813.1:n.*260C>T
NR_038133.1:n.1506C>T
NM_001025201.4:c.*260C>T	NP_001020372.2:n.*260C>T
NM_001206602.2:c.*260C>T	NP_001193531.1:n.*260C>T
NM_001371513.1:c.*260C>T	NP_001358442.1:n.*260C>T
NM_001371514.1:c.*260C>T	NP_001358443.1:n.*260C>T
NM_001822.7:c.*260C>T MANE Select	NP_001813.1:n.*260C>T
NR_038133.2:n.1508C>T