Canonical Allele Identifier: CA430017365

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800260-A-G
• MyVariant Identifiers: chr2:g.175664988A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800260A>G , CM000664.2:g.174800260A>G	GRCh38
NC_000002.11:g.175664988A>G , CM000664.1:g.175664988A>G	GRCh37
NC_000002.10:g.175373234A>G	NCBI36
NG_012642.1:g.210183T>C
NG_012642.2:g.210183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.861T>C	ENSP00000295497.7:p.Leu287=
ENST00000295497.12:c.861T>C	ENSP00000295497.7:p.Leu287=
ENST00000409089.7:c.612T>C	ENSP00000386322.3:p.Leu204=
ENST00000409900.9:c.1236T>C MANE Select	ENSP00000386741.4:p.Leu412=
ENST00000413882.6:c.690T>C	ENSP00000410496.2:p.Leu230=
ENST00000443238.6:c.714T>C	ENSP00000409798.2:p.Leu238=
ENST00000488080.6:n.879T>C
ENST00000650731.1:c.561T>C	ENSP00000499146.1:p.Leu187=
ENST00000650938.1:c.622T>C
ENST00000651246.1:c.828T>C	ENSP00000498484.1:p.Leu276=
ENST00000651501.1:c.*683T>C	ENSP00000498894.1:n.*683T>C
ENST00000651717.1:c.*512T>C	ENSP00000499124.1:n.*512T>C
ENST00000652036.1:c.912T>C	ENSP00000499139.1:p.Leu304=
ENST00000295497.11:c.861T>C	ENSP00000295497.7:p.Leu287=
ENST00000409156.7:c.1158T>C	ENSP00000386470.3:p.Leu386=
ENST00000409597.5:c.684T>C	ENSP00000386469.1:p.Leu228=
ENST00000409900.7:c.1236T>C	ENSP00000386741.3:p.Leu412=
ENST00000488080.5:n.1087T>C
ENST00000492964.1:n.379T>C
NM_001025201.3:c.1158T>C	NP_001020372.2:p.Leu386=
NM_001206602.1:c.861T>C	NP_001193531.1:p.Leu287=
NM_001822.5:c.1236T>C	NP_001813.1:p.Leu412=
NR_038133.1:n.1102T>C
NM_001025201.4:c.1158T>C	NP_001020372.2:p.Leu386=
NM_001206602.2:c.861T>C	NP_001193531.1:p.Leu287=
NM_001371513.1:c.1236T>C	NP_001358442.1:p.Leu412=
NM_001371514.1:c.1287T>C	NP_001358443.1:p.Leu429=
NM_001822.7:c.1236T>C MANE Select	NP_001813.1:p.Leu412=
NR_038133.2:n.1104T>C