Canonical Allele Identifier: CA259875

Gene: IRF6

Linked Data

• ClinVar Variation Id: 30652
• ClinVar RCV Id: RCV000023628 ; RCV000023629
• dbSNP Id: rs387906967
• MyVariant Identifiers: chr1:g.209974694A>G (hg19) ; chr1:g.209801349A>G (hg38)
• PubMed: PMID:14757865

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801349A>G , CM000663.2:g.209801349A>G	GRCh38
NC_000001.10:g.209974694A>G , CM000663.1:g.209974694A>G	GRCh37
NC_000001.9:g.208041317A>G	NCBI36
NG_007081.2:g.9786T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.65T>C	ENSP00000512426.1:p.Leu22Pro
ENST00000696134.1:c.65T>C	ENSP00000512427.1:p.Leu22Pro
ENST00000367021.8:c.65T>C MANE Select	ENSP00000355988.3:p.Leu22Pro
ENST00000643798.1:c.65T>C	ENSP00000496669.1:p.Leu22Pro
ENST00000367021.7:c.65T>C	ENSP00000355988.3:p.Leu22Pro
ENST00000456314.1:c.65T>C	ENSP00000403855.1:p.Leu22Pro
ENST00000542854.5:c.-112+4598T>C	ENSP00000440532.1:n.-112+4598T>C
NM_001206696.1:c.-112+4598T>C	NP_001193625.1:n.-112+4598T>C
NM_006147.3:c.65T>C	NP_006138.1:p.Leu22Pro
NM_006147.4:c.65T>C MANE Select	NP_006138.1:p.Leu22Pro
NM_001206696.2:c.-112+4598T>C	NP_001193625.1:n.-112+4598T>C