Canonical Allele Identifier: CA2662021735

Gene: CHN1

Linked Data

• gnomAD v4: 2-174799367-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799367C>A , CM000664.2:g.174799367C>A	GRCh38
NC_000002.11:g.175664095C>A , CM000664.1:g.175664095C>A	GRCh37
NC_000002.10:g.175372341C>A	NCBI36
NG_012642.1:g.211076G>T
NG_012642.2:g.211076G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*749G>T	ENSP00000295497.7:n.*749G>T
ENST00000295497.12:c.*749G>T	ENSP00000295497.7:n.*749G>T
ENST00000409900.9:c.*749G>T MANE Select	ENSP00000386741.4:n.*749G>T
ENST00000652036.1:c.*749G>T	ENSP00000499139.1:n.*749G>T
ENST00000409900.7:c.*749G>T	ENSP00000386741.3:n.*749G>T
NM_001025201.3:c.*749G>T	NP_001020372.2:n.*749G>T
NM_001206602.1:c.*749G>T	NP_001193531.1:n.*749G>T
NM_001822.5:c.*749G>T	NP_001813.1:n.*749G>T
NR_038133.1:n.1995G>T
NM_001025201.4:c.*749G>T	NP_001020372.2:n.*749G>T
NM_001206602.2:c.*749G>T	NP_001193531.1:n.*749G>T
NM_001371513.1:c.*749G>T	NP_001358442.1:n.*749G>T
NM_001371514.1:c.*749G>T	NP_001358443.1:n.*749G>T
NM_001822.7:c.*749G>T MANE Select	NP_001813.1:n.*749G>T
NR_038133.2:n.1997G>T