Canonical Allele Identifier: CA2662027517

Gene: CHN1

Linked Data

• gnomAD v4: 2-174944847-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174944847G>A , CM000664.2:g.174944847G>A	GRCh38
NC_000002.11:g.175809575G>A , CM000664.1:g.175809575G>A	GRCh37
NC_000002.10:g.175517821G>A	NCBI36
NG_012642.1:g.65596C>T
NG_012642.2:g.65596C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.114+41C>T MANE Select	ENSP00000386741.4:n.114+41C>T
ENST00000425395.6:c.-11+7317C>T	ENSP00000405270.2:n.-11+7317C>T
ENST00000444573.2:c.-43+41C>T	ENSP00000392603.2:n.-43+41C>T
ENST00000451799.2:c.-43+41C>T	ENSP00000416316.2:n.-43+41C>T
ENST00000469597.2:c.58+7317C>T	ENSP00000498417.1:n.58+7317C>T
ENST00000650734.1:c.114+41C>T	ENSP00000498742.1:n.114+41C>T
ENST00000650770.1:c.114+41C>T	ENSP00000499036.1:n.114+41C>T
ENST00000651063.1:n.165+41C>T
ENST00000651501.1:c.-43+41C>T	ENSP00000498894.1:n.-43+41C>T
ENST00000651580.1:c.-43+41C>T	ENSP00000498631.1:n.-43+41C>T
ENST00000651599.1:c.-10-29676C>T	ENSP00000498535.1:n.-10-29676C>T
ENST00000651803.1:c.114+41C>T	ENSP00000499007.1:n.114+41C>T
ENST00000651971.1:c.58+7317C>T	ENSP00000499035.1:n.58+7317C>T
ENST00000652157.1:n.346+41C>T
ENST00000652208.1:c.-43+41C>T	ENSP00000498475.1:n.-43+41C>T
ENST00000652434.1:c.-112+41C>T	ENSP00000498549.1:n.-112+41C>T
ENST00000652437.1:n.257+41C>T
ENST00000409156.7:c.114+41C>T	ENSP00000386470.3:n.114+41C>T
ENST00000409900.7:c.114+41C>T	ENSP00000386741.3:n.114+41C>T
ENST00000425395.5:c.58+7317C>T	ENSP00000405270.1:n.58+7317C>T
ENST00000451799.1:c.*137+41C>T	ENSP00000416316.1:n.*137+41C>T
ENST00000469597.1:n.365+7317C>T
ENST00000488080.5:n.254+41C>T
NM_001025201.3:c.114+41C>T	NP_001020372.2:n.114+41C>T
NM_001822.5:c.114+41C>T	NP_001813.1:n.114+41C>T
NR_038133.1:n.269+41C>T
NM_001025201.4:c.114+41C>T	NP_001020372.2:n.114+41C>T
NM_001371513.1:c.114+41C>T	NP_001358442.1:n.114+41C>T
NM_001371514.1:c.58+7317C>T	NP_001358443.1:n.58+7317C>T
NM_001822.7:c.114+41C>T MANE Select	NP_001813.1:n.114+41C>T
NR_038133.2:n.271+41C>T