Canonical Allele Identifier: CA430022739

Gene: CHN1

Linked Data

• dbSNP Id: rs1685613951
• gnomAD v4: 2-174824459-G-A
• MyVariant Identifiers: chr2:g.175689187G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824459G>A , CM000664.2:g.174824459G>A	GRCh38
NC_000002.11:g.175689187G>A , CM000664.1:g.175689187G>A	GRCh37
NC_000002.10:g.175397433G>A	NCBI36
NG_012642.1:g.185984C>T
NG_012642.2:g.185984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.312C>T	ENSP00000295497.7:p.Leu104=
ENST00000444394.7:c.312C>T	ENSP00000411911.2:p.Leu104=
ENST00000295497.12:c.312C>T	ENSP00000295497.7:p.Leu104=
ENST00000409089.7:c.12C>T	ENSP00000386322.3:p.Leu4=
ENST00000409900.9:c.687C>T MANE Select	ENSP00000386741.4:p.Leu229=
ENST00000413882.6:c.141C>T	ENSP00000410496.2:p.Leu47=
ENST00000425395.6:c.*134C>T	ENSP00000405270.2:n.*134C>T
ENST00000443238.6:c.165C>T	ENSP00000409798.2:p.Leu55=
ENST00000444394.6:c.312C>T	ENSP00000411911.2:p.Leu104=
ENST00000444573.2:c.531C>T	ENSP00000392603.2:p.Leu177=
ENST00000488080.6:n.330C>T
ENST00000650731.1:c.12C>T	ENSP00000499146.1:p.Leu4=
ENST00000650938.1:c.211C>T
ENST00000651246.1:c.279C>T	ENSP00000498484.1:p.Leu93=
ENST00000651373.1:c.201C>T	ENSP00000499174.1:p.Leu67=
ENST00000651501.1:c.*134C>T	ENSP00000498894.1:n.*134C>T
ENST00000651717.1:c.253-11977C>T	ENSP00000499124.1:n.253-11977C>T
ENST00000652036.1:c.312C>T	ENSP00000499139.1:p.Leu104=
ENST00000652154.1:n.585C>T
ENST00000295497.11:c.312C>T	ENSP00000295497.7:p.Leu104=
ENST00000409089.6:c.12C>T	ENSP00000386322.2:p.Leu4=
ENST00000409156.7:c.609C>T	ENSP00000386470.3:p.Leu203=
ENST00000409597.5:c.135C>T	ENSP00000386469.1:p.Leu45=
ENST00000409900.7:c.687C>T	ENSP00000386741.3:p.Leu229=
ENST00000413882.5:c.141C>T	ENSP00000410496.1:p.Leu47=
ENST00000425395.5:c.*238C>T	ENSP00000405270.1:n.*238C>T
ENST00000443238.5:c.165C>T	ENSP00000409798.1:p.Leu55=
ENST00000444394.5:c.12C>T	ENSP00000411911.1:p.Leu4=
ENST00000444573.1:c.312C>T	ENSP00000392603.1:p.Leu104=
ENST00000485882.1:n.146C>T
ENST00000488080.5:n.538C>T
NM_001025201.3:c.609C>T	NP_001020372.2:p.Leu203=
NM_001206602.1:c.312C>T	NP_001193531.1:p.Leu104=
NM_001822.5:c.687C>T	NP_001813.1:p.Leu229=
NR_038133.1:n.553C>T
NM_001025201.4:c.609C>T	NP_001020372.2:p.Leu203=
NM_001206602.2:c.312C>T	NP_001193531.1:p.Leu104=
NM_001371513.1:c.687C>T	NP_001358442.1:p.Leu229=
NM_001371514.1:c.738C>T	NP_001358443.1:p.Leu246=
NM_001822.7:c.687C>T MANE Select	NP_001813.1:p.Leu229=
NR_038133.2:n.555C>T