Canonical Allele Identifier: CA349347649

Gene: CHN1

Linked Data

• ClinVar Variation Id: 2574198
• ClinVar RCV Id: RCV003318780
• gnomAD v4: 2-174824434-C-A
• MyVariant Identifiers: chr2:g.175689162C>A (hg19) ; chr2:g.174824434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824434C>A , CM000664.2:g.174824434C>A	GRCh38
NC_000002.11:g.175689162C>A , CM000664.1:g.175689162C>A	GRCh37
NC_000002.10:g.175397408C>A	NCBI36
NG_012642.1:g.186009G>T
NG_012642.2:g.186009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.337G>T	ENSP00000295497.7:p.Asp113Tyr
ENST00000444394.7:c.337G>T	ENSP00000411911.2:p.Asp113Tyr
ENST00000295497.12:c.337G>T	ENSP00000295497.7:p.Asp113Tyr
ENST00000409089.7:c.37G>T	ENSP00000386322.3:p.Val13Phe
ENST00000409900.9:c.712G>T MANE Select	ENSP00000386741.4:p.Asp238Tyr
ENST00000413882.6:c.166G>T	ENSP00000410496.2:p.Asp56Tyr
ENST00000425395.6:c.*159G>T	ENSP00000405270.2:n.*159G>T
ENST00000443238.6:c.190G>T	ENSP00000409798.2:p.Asp64Tyr
ENST00000444394.6:c.337G>T	ENSP00000411911.2:p.Asp113Tyr
ENST00000444573.2:c.556G>T	ENSP00000392603.2:p.Val186Phe
ENST00000488080.6:n.355G>T
ENST00000650731.1:c.37G>T	ENSP00000499146.1:p.Asp13Tyr
ENST00000650938.1:c.236G>T
ENST00000651246.1:c.304G>T	ENSP00000498484.1:p.Asp102Tyr
ENST00000651373.1:c.226G>T	ENSP00000499174.1:p.Asp76Tyr
ENST00000651501.1:c.*159G>T	ENSP00000498894.1:n.*159G>T
ENST00000651717.1:c.253-11952G>T	ENSP00000499124.1:n.253-11952G>T
ENST00000652036.1:c.337G>T	ENSP00000499139.1:p.Val113Phe
ENST00000652154.1:n.610G>T
ENST00000295497.11:c.337G>T	ENSP00000295497.7:p.Asp113Tyr
ENST00000409089.6:c.37G>T	ENSP00000386322.2:p.Val13Phe
ENST00000409156.7:c.634G>T	ENSP00000386470.3:p.Asp212Tyr
ENST00000409597.5:c.160G>T	ENSP00000386469.1:p.Asp54Tyr
ENST00000409900.7:c.712G>T	ENSP00000386741.3:p.Asp238Tyr
ENST00000413882.5:c.166G>T	ENSP00000410496.1:p.Asp56Tyr
ENST00000425395.5:c.*263G>T	ENSP00000405270.1:n.*263G>T
ENST00000443238.5:c.190G>T	ENSP00000409798.1:p.Asp64Tyr
ENST00000444394.5:c.37G>T	ENSP00000411911.1:p.Asp13Tyr
ENST00000444573.1:c.337G>T	ENSP00000392603.1:p.Val113Phe
ENST00000485882.1:n.171G>T
ENST00000488080.5:n.563G>T
NM_001025201.3:c.634G>T	NP_001020372.2:p.Asp212Tyr
NM_001206602.1:c.337G>T	NP_001193531.1:p.Asp113Tyr
NM_001822.5:c.712G>T	NP_001813.1:p.Asp238Tyr
NR_038133.1:n.578G>T
NM_001025201.4:c.634G>T	NP_001020372.2:p.Asp212Tyr
NM_001206602.2:c.337G>T	NP_001193531.1:p.Asp113Tyr
NM_001371513.1:c.712G>T	NP_001358442.1:p.Asp238Tyr
NM_001371514.1:c.763G>T	NP_001358443.1:p.Asp255Tyr
NM_001822.7:c.712G>T MANE Select	NP_001813.1:p.Asp238Tyr
NR_038133.2:n.580G>T