Canonical Allele Identifier: CA537762526

Gene: CHN1

Linked Data

• dbSNP Id: rs988910700
• gnomAD v2: 2-175664691-G-A
• gnomAD v3: 2-174799963-G-A
• gnomAD v4: 2-174799963-G-A
• MyVariant Identifiers: chr2:g.175664691G>A (hg19) ; chr2:g.174799963G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799963G>A , CM000664.2:g.174799963G>A	GRCh38
NC_000002.11:g.175664691G>A , CM000664.1:g.175664691G>A	GRCh37
NC_000002.10:g.175372937G>A	NCBI36
NG_012642.1:g.210480C>T
NG_012642.2:g.210480C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*153C>T	ENSP00000295497.7:n.*153C>T
ENST00000295497.12:c.*153C>T	ENSP00000295497.7:n.*153C>T
ENST00000409900.9:c.*153C>T MANE Select	ENSP00000386741.4:n.*153C>T
ENST00000413882.6:c.*153C>T	ENSP00000410496.2:n.*153C>T
ENST00000443238.6:c.*153C>T	ENSP00000409798.2:n.*153C>T
ENST00000488080.6:n.1176C>T
ENST00000650731.1:c.*153C>T	ENSP00000499146.1:n.*153C>T
ENST00000650938.1:c.919C>T
ENST00000651246.1:c.*153C>T	ENSP00000498484.1:n.*153C>T
ENST00000651501.1:c.*980C>T	ENSP00000498894.1:n.*980C>T
ENST00000651717.1:c.*809C>T	ENSP00000499124.1:n.*809C>T
ENST00000652036.1:c.*153C>T	ENSP00000499139.1:n.*153C>T
ENST00000295497.11:c.*153C>T	ENSP00000295497.7:n.*153C>T
ENST00000409597.5:c.*153C>T	ENSP00000386469.1:n.*153C>T
ENST00000409900.7:c.*153C>T	ENSP00000386741.3:n.*153C>T
ENST00000488080.5:n.1384C>T
ENST00000492964.1:n.676C>T
NM_001025201.3:c.*153C>T	NP_001020372.2:n.*153C>T
NM_001206602.1:c.*153C>T	NP_001193531.1:n.*153C>T
NM_001822.5:c.*153C>T	NP_001813.1:n.*153C>T
NR_038133.1:n.1399C>T
NM_001025201.4:c.*153C>T	NP_001020372.2:n.*153C>T
NM_001206602.2:c.*153C>T	NP_001193531.1:n.*153C>T
NM_001371513.1:c.*153C>T	NP_001358442.1:n.*153C>T
NM_001371514.1:c.*153C>T	NP_001358443.1:n.*153C>T
NM_001822.7:c.*153C>T MANE Select	NP_001813.1:n.*153C>T
NR_038133.2:n.1401C>T