Canonical Allele Identifier: CA215979

Gene: JUN

Linked Data

• ClinVar Variation Id: 56164
• ClinVar RCV Id: RCV000049575 ; RCV004018965
• dbSNP Id: rs377289876
• ExAC: 1:59248085 G / C
• gnomAD v2: 1-59248085-G-C
• gnomAD v3: 1-58782413-G-C
• gnomAD v4: 1-58782413-G-C
• MyVariant Identifiers: chr1:g.59248085G>C (hg19) ; chr1:g.58782413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.58782413G>C , CM000663.2:g.58782413G>C	GRCh38
NC_000001.10:g.59248085G>C , CM000663.1:g.59248085G>C	GRCh37
NC_000001.9:g.59020673G>C	NCBI36
NG_047027.1:g.6701C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710273.1:c.724C>G	ENSP00000518166.1:p.Pro242Ala
ENST00000371222.4:c.658C>G MANE Select	ENSP00000360266.2:p.Pro220Ala
ENST00000678696.1:c.658C>G	ENSP00000503132.1:p.Pro220Ala
ENST00000371222.3:c.658C>G	ENSP00000360266.2:p.Pro220Ala
NM_002228.3:c.658C>G	NP_002219.1:p.Pro220Ala
NM_002228.4:c.658C>G MANE Select	NP_002219.1:p.Pro220Ala