Canonical Allele Identifier: CA430017389

Gene: CHN1

Linked Data

• dbSNP Id: rs1380114873
• gnomAD v3: 2-174800278-G-A
• gnomAD v4: 2-174800278-G-A
• MyVariant Identifiers: chr2:g.175665006G>A (hg19) ; chr2:g.174800278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800278G>A , CM000664.2:g.174800278G>A	GRCh38
NC_000002.11:g.175665006G>A , CM000664.1:g.175665006G>A	GRCh37
NC_000002.10:g.175373252G>A	NCBI36
NG_012642.1:g.210165C>T
NG_012642.2:g.210165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.843C>T	ENSP00000295497.7:p.Leu281=
ENST00000295497.12:c.843C>T	ENSP00000295497.7:p.Leu281=
ENST00000409089.7:c.594C>T	ENSP00000386322.3:p.Leu198=
ENST00000409900.9:c.1218C>T MANE Select	ENSP00000386741.4:p.Leu406=
ENST00000413882.6:c.672C>T	ENSP00000410496.2:p.Leu224=
ENST00000443238.6:c.696C>T	ENSP00000409798.2:p.Leu232=
ENST00000488080.6:n.861C>T
ENST00000650731.1:c.543C>T	ENSP00000499146.1:p.Leu181=
ENST00000650938.1:c.604C>T
ENST00000651246.1:c.810C>T	ENSP00000498484.1:p.Leu270=
ENST00000651501.1:c.*665C>T	ENSP00000498894.1:n.*665C>T
ENST00000651717.1:c.*494C>T	ENSP00000499124.1:n.*494C>T
ENST00000652036.1:c.894C>T	ENSP00000499139.1:p.Leu298=
ENST00000295497.11:c.843C>T	ENSP00000295497.7:p.Leu281=
ENST00000409156.7:c.1140C>T	ENSP00000386470.3:p.Leu380=
ENST00000409597.5:c.666C>T	ENSP00000386469.1:p.Leu222=
ENST00000409900.7:c.1218C>T	ENSP00000386741.3:p.Leu406=
ENST00000488080.5:n.1069C>T
ENST00000492964.1:n.361C>T
NM_001025201.3:c.1140C>T	NP_001020372.2:p.Leu380=
NM_001206602.1:c.843C>T	NP_001193531.1:p.Leu281=
NM_001822.5:c.1218C>T	NP_001813.1:p.Leu406=
NR_038133.1:n.1084C>T
NM_001025201.4:c.1140C>T	NP_001020372.2:p.Leu380=
NM_001206602.2:c.843C>T	NP_001193531.1:p.Leu281=
NM_001371513.1:c.1218C>T	NP_001358442.1:p.Leu406=
NM_001371514.1:c.1269C>T	NP_001358443.1:p.Leu423=
NM_001822.7:c.1218C>T MANE Select	NP_001813.1:p.Leu406=
NR_038133.2:n.1086C>T