Canonical Allele Identifier: CA349347838

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824483-G-T
• MyVariant Identifiers: chr2:g.175689211G>T (hg19) ; chr2:g.174824483G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824483G>T , CM000664.2:g.174824483G>T	GRCh38
NC_000002.11:g.175689211G>T , CM000664.1:g.175689211G>T	GRCh37
NC_000002.10:g.175397457G>T	NCBI36
NG_012642.1:g.185960C>A
NG_012642.2:g.185960C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.288C>A	ENSP00000295497.7:p.Tyr96Ter
ENST00000444394.7:c.288C>A	ENSP00000411911.2:p.Tyr96Ter
ENST00000295497.12:c.288C>A	ENSP00000295497.7:p.Tyr96Ter
ENST00000409089.7:c.-13C>A	ENSP00000386322.3:n.-13C>A
ENST00000409900.9:c.663C>A MANE Select	ENSP00000386741.4:p.Tyr221Ter
ENST00000413882.6:c.117C>A	ENSP00000410496.2:p.Tyr39Ter
ENST00000425395.6:c.*110C>A	ENSP00000405270.2:n.*110C>A
ENST00000443238.6:c.141C>A	ENSP00000409798.2:p.Tyr47Ter
ENST00000444394.6:c.288C>A	ENSP00000411911.2:p.Tyr96Ter
ENST00000444573.2:c.507C>A	ENSP00000392603.2:p.Tyr169Ter
ENST00000488080.6:n.306C>A
ENST00000650731.1:c.-13C>A	ENSP00000499146.1:n.-13C>A
ENST00000650938.1:c.187C>A
ENST00000651246.1:c.255C>A	ENSP00000498484.1:p.Tyr85Ter
ENST00000651373.1:c.177C>A	ENSP00000499174.1:p.Tyr59Ter
ENST00000651501.1:c.*110C>A	ENSP00000498894.1:n.*110C>A
ENST00000651717.1:c.253-12001C>A	ENSP00000499124.1:n.253-12001C>A
ENST00000652036.1:c.288C>A	ENSP00000499139.1:p.Tyr96Ter
ENST00000652154.1:n.561C>A
ENST00000295497.11:c.288C>A	ENSP00000295497.7:p.Tyr96Ter
ENST00000409089.6:c.-13C>A	ENSP00000386322.2:n.-13C>A
ENST00000409156.7:c.585C>A	ENSP00000386470.3:p.Tyr195Ter
ENST00000409597.5:c.111C>A	ENSP00000386469.1:p.Tyr37Ter
ENST00000409900.7:c.663C>A	ENSP00000386741.3:p.Tyr221Ter
ENST00000413882.5:c.117C>A	ENSP00000410496.1:p.Tyr39Ter
ENST00000425395.5:c.*214C>A	ENSP00000405270.1:n.*214C>A
ENST00000443238.5:c.141C>A	ENSP00000409798.1:p.Tyr47Ter
ENST00000444394.5:c.-13C>A	ENSP00000411911.1:n.-13C>A
ENST00000444573.1:c.288C>A	ENSP00000392603.1:p.Tyr96Ter
ENST00000485882.1:n.122C>A
ENST00000488080.5:n.514C>A
NM_001025201.3:c.585C>A	NP_001020372.2:p.Tyr195Ter
NM_001206602.1:c.288C>A	NP_001193531.1:p.Tyr96Ter
NM_001822.5:c.663C>A	NP_001813.1:p.Tyr221Ter
NR_038133.1:n.529C>A
NM_001025201.4:c.585C>A	NP_001020372.2:p.Tyr195Ter
NM_001206602.2:c.288C>A	NP_001193531.1:p.Tyr96Ter
NM_001371513.1:c.663C>A	NP_001358442.1:p.Tyr221Ter
NM_001371514.1:c.714C>A	NP_001358443.1:p.Tyr238Ter
NM_001822.7:c.663C>A MANE Select	NP_001813.1:p.Tyr221Ter
NR_038133.2:n.531C>A