Canonical Allele Identifier: CA36751444

Gene: IRF6

Linked Data

• dbSNP Id: rs759401826
• gnomAD v2: 1-209959133-C-T
• gnomAD v3: 1-209785788-C-T
• gnomAD v4: 1-209785788-C-T
• MyVariant Identifiers: chr1:g.209959133C>T (hg19) ; chr1:g.209785788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209785788C>T , CM000663.2:g.209785788C>T	GRCh38
NC_000001.10:g.209959133C>T , CM000663.1:g.209959133C>T	GRCh37
NC_000001.9:g.208025756C>T	NCBI36
NG_007081.2:g.25347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1401-2079G>A	ENSP00000512426.1:n.1401-2079G>A
ENST00000696134.1:c.*3463G>A	ENSP00000512427.1:n.*3463G>A
ENST00000367021.8:c.*2632G>A MANE Select	ENSP00000355988.3:n.*2632G>A
ENST00000367021.7:c.*2632G>A	ENSP00000355988.3:n.*2632G>A
ENST00000542854.5:c.*2632G>A	ENSP00000440532.1:n.*2632G>A
NM_001206696.1:c.*2632G>A	NP_001193625.1:n.*2632G>A
NM_006147.3:c.*2632G>A	NP_006138.1:n.*2632G>A
NM_006147.4:c.*2632G>A MANE Select	NP_006138.1:n.*2632G>A
NM_001206696.2:c.*2632G>A	NP_001193625.1:n.*2632G>A