Canonical Allele Identifier: CA349342154

Gene: CHN1

Linked Data

• dbSNP Id: rs1684673857
• gnomAD v3: 2-174800182-C-G
• gnomAD v4: 2-174800182-C-G
• MyVariant Identifiers: chr2:g.175664910C>G (hg19) ; chr2:g.174800182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800182C>G , CM000664.2:g.174800182C>G	GRCh38
NC_000002.11:g.175664910C>G , CM000664.1:g.175664910C>G	GRCh37
NC_000002.10:g.175373156C>G	NCBI36
NG_012642.1:g.210261G>C
NG_012642.2:g.210261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.939G>C	ENSP00000295497.7:p.Leu313Phe
ENST00000295497.12:c.939G>C	ENSP00000295497.7:p.Leu313Phe
ENST00000409900.9:c.1314G>C MANE Select	ENSP00000386741.4:p.Leu438Phe
ENST00000413882.6:c.768G>C	ENSP00000410496.2:p.Leu256Phe
ENST00000443238.6:c.792G>C	ENSP00000409798.2:p.Leu264Phe
ENST00000488080.6:n.957G>C
ENST00000650731.1:c.639G>C	ENSP00000499146.1:p.Leu213Phe
ENST00000650938.1:c.700G>C
ENST00000651246.1:c.906G>C	ENSP00000498484.1:p.Leu302Phe
ENST00000651501.1:c.*761G>C	ENSP00000498894.1:n.*761G>C
ENST00000651717.1:c.*590G>C	ENSP00000499124.1:n.*590G>C
ENST00000652036.1:c.990G>C	ENSP00000499139.1:p.Leu330Phe
ENST00000295497.11:c.939G>C	ENSP00000295497.7:p.Leu313Phe
ENST00000409156.7:c.1236G>C	ENSP00000386470.3:p.Leu412Phe
ENST00000409597.5:c.762G>C	ENSP00000386469.1:p.Leu254Phe
ENST00000409900.7:c.1314G>C	ENSP00000386741.3:p.Leu438Phe
ENST00000488080.5:n.1165G>C
ENST00000492964.1:n.457G>C
NM_001025201.3:c.1236G>C	NP_001020372.2:p.Leu412Phe
NM_001206602.1:c.939G>C	NP_001193531.1:p.Leu313Phe
NM_001822.5:c.1314G>C	NP_001813.1:p.Leu438Phe
NR_038133.1:n.1180G>C
NM_001025201.4:c.1236G>C	NP_001020372.2:p.Leu412Phe
NM_001206602.2:c.939G>C	NP_001193531.1:p.Leu313Phe
NM_001371513.1:c.1314G>C	NP_001358442.1:p.Leu438Phe
NM_001371514.1:c.1365G>C	NP_001358443.1:p.Leu455Phe
NM_001822.7:c.1314G>C MANE Select	NP_001813.1:p.Leu438Phe
NR_038133.2:n.1182G>C