Canonical Allele Identifier: CA10609684

Gene: IRF6

Linked Data

• ClinVar Variation Id: 295206
• ClinVar RCV Id: RCV003165800
• dbSNP Id: rs886045883
• gnomAD v2: 1-209961781-G-A
• gnomAD v4: 1-209788436-G-A
• MyVariant Identifiers: chr1:g.209961781G>A (hg19) ; chr1:g.209788436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788436G>A , CM000663.2:g.209788436G>A	GRCh38
NC_000001.10:g.209961781G>A , CM000663.1:g.209961781G>A	GRCh37
NC_000001.9:g.208028404G>A	NCBI36
NG_007081.2:g.22699C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1388C>T	ENSP00000512426.1:p.Ala463Val
ENST00000696134.1:c.*815C>T	ENSP00000512427.1:n.*815C>T
ENST00000367021.8:c.1388C>T MANE Select	ENSP00000355988.3:p.Ala463Val
ENST00000643798.1:c.*898C>T	ENSP00000496669.1:n.*898C>T
ENST00000367021.7:c.1388C>T	ENSP00000355988.3:p.Ala463Val
ENST00000542854.5:c.1103C>T	ENSP00000440532.1:p.Ala368Val
NM_001206696.1:c.1103C>T	NP_001193625.1:p.Ala368Val
NM_006147.3:c.1388C>T	NP_006138.1:p.Ala463Val
NM_006147.4:c.1388C>T MANE Select	NP_006138.1:p.Ala463Val
NM_001206696.2:c.1103C>T	NP_001193625.1:p.Ala368Val