Canonical Allele Identifier: CA60837683

Gene: CHN1

Linked Data

• dbSNP Id: rs916118664
• gnomAD v4: 2-174799540-C-A
• MyVariant Identifiers: chr2:g.175664268C>A (hg19) ; chr2:g.174799540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799540C>A , CM000664.2:g.174799540C>A	GRCh38
NC_000002.11:g.175664268C>A , CM000664.1:g.175664268C>A	GRCh37
NC_000002.10:g.175372514C>A	NCBI36
NG_012642.1:g.210903G>T
NG_012642.2:g.210903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*576G>T	ENSP00000295497.7:n.*576G>T
ENST00000295497.12:c.*576G>T	ENSP00000295497.7:n.*576G>T
ENST00000409900.9:c.*576G>T MANE Select	ENSP00000386741.4:n.*576G>T
ENST00000443238.6:c.*576G>T	ENSP00000409798.2:n.*576G>T
ENST00000488080.6:n.1599G>T
ENST00000650731.1:c.*576G>T	ENSP00000499146.1:n.*576G>T
ENST00000650938.1:c.1342G>T
ENST00000651501.1:c.*1403G>T	ENSP00000498894.1:n.*1403G>T
ENST00000651717.1:c.*1232G>T	ENSP00000499124.1:n.*1232G>T
ENST00000652036.1:c.*576G>T	ENSP00000499139.1:n.*576G>T
ENST00000295497.11:c.*576G>T	ENSP00000295497.7:n.*576G>T
ENST00000409597.5:c.*576G>T	ENSP00000386469.1:n.*576G>T
ENST00000409900.7:c.*576G>T	ENSP00000386741.3:n.*576G>T
ENST00000488080.5:n.1807G>T
NM_001025201.3:c.*576G>T	NP_001020372.2:n.*576G>T
NM_001206602.1:c.*576G>T	NP_001193531.1:n.*576G>T
NM_001822.5:c.*576G>T	NP_001813.1:n.*576G>T
NR_038133.1:n.1822G>T
NM_001025201.4:c.*576G>T	NP_001020372.2:n.*576G>T
NM_001206602.2:c.*576G>T	NP_001193531.1:n.*576G>T
NM_001371513.1:c.*576G>T	NP_001358442.1:n.*576G>T
NM_001371514.1:c.*576G>T	NP_001358443.1:n.*576G>T
NM_001822.7:c.*576G>T MANE Select	NP_001813.1:n.*576G>T
NR_038133.2:n.1824G>T