Canonical Allele Identifier: CA349342751

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665014C>G (hg19) ; chr2:g.174800286C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800286C>G , CM000664.2:g.174800286C>G	GRCh38
NC_000002.11:g.175665014C>G , CM000664.1:g.175665014C>G	GRCh37
NC_000002.10:g.175373260C>G	NCBI36
NG_012642.1:g.210157G>C
NG_012642.2:g.210157G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.835G>C	ENSP00000295497.7:p.Val279Leu
ENST00000444394.7:c.964G>C	ENSP00000411911.2:p.Val322Leu
ENST00000295497.12:c.835G>C	ENSP00000295497.7:p.Val279Leu
ENST00000409089.7:c.586G>C	ENSP00000386322.3:p.Val196Leu
ENST00000409900.9:c.1210G>C MANE Select	ENSP00000386741.4:p.Val404Leu
ENST00000413882.6:c.664G>C	ENSP00000410496.2:p.Val222Leu
ENST00000443238.6:c.688G>C	ENSP00000409798.2:p.Val230Leu
ENST00000444394.6:c.964G>C	ENSP00000411911.2:p.Val322Leu
ENST00000488080.6:n.853G>C
ENST00000650731.1:c.535G>C	ENSP00000499146.1:p.Val179Leu
ENST00000650938.1:c.596G>C
ENST00000651246.1:c.802G>C	ENSP00000498484.1:p.Val268Leu
ENST00000651501.1:c.*657G>C	ENSP00000498894.1:n.*657G>C
ENST00000651717.1:c.*486G>C	ENSP00000499124.1:n.*486G>C
ENST00000652036.1:c.886G>C	ENSP00000499139.1:p.Val296Leu
ENST00000295497.11:c.835G>C	ENSP00000295497.7:p.Val279Leu
ENST00000409156.7:c.1132G>C	ENSP00000386470.3:p.Val378Leu
ENST00000409597.5:c.658G>C	ENSP00000386469.1:p.Val220Leu
ENST00000409900.7:c.1210G>C	ENSP00000386741.3:p.Val404Leu
ENST00000488080.5:n.1061G>C
ENST00000492964.1:n.353G>C
NM_001025201.3:c.1132G>C	NP_001020372.2:p.Val378Leu
NM_001206602.1:c.835G>C	NP_001193531.1:p.Val279Leu
NM_001822.5:c.1210G>C	NP_001813.1:p.Val404Leu
NR_038133.1:n.1076G>C
NM_001025201.4:c.1132G>C	NP_001020372.2:p.Val378Leu
NM_001206602.2:c.835G>C	NP_001193531.1:p.Val279Leu
NM_001371513.1:c.1210G>C	NP_001358442.1:p.Val404Leu
NM_001371514.1:c.1261G>C	NP_001358443.1:p.Val421Leu
NM_001822.7:c.1210G>C MANE Select	NP_001813.1:p.Val404Leu
NR_038133.2:n.1078G>C