Canonical Allele Identifier: CA2484363877

Gene: IRF6

Linked Data

• dbSNP Id: rs2077830540
• gnomAD v4: 1-209785919-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209785919G>T , CM000663.2:g.209785919G>T	GRCh38
NC_000001.10:g.209959264G>T , CM000663.1:g.209959264G>T	GRCh37
NC_000001.9:g.208025887G>T	NCBI36
NG_007081.2:g.25216C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1401-2210C>A	ENSP00000512426.1:n.1401-2210C>A
ENST00000696134.1:c.*3332C>A	ENSP00000512427.1:n.*3332C>A
ENST00000367021.8:c.*2501C>A MANE Select	ENSP00000355988.3:n.*2501C>A
ENST00000367021.7:c.*2501C>A	ENSP00000355988.3:n.*2501C>A
ENST00000542854.5:c.*2501C>A	ENSP00000440532.1:n.*2501C>A
NM_001206696.1:c.*2501C>A	NP_001193625.1:n.*2501C>A
NM_006147.3:c.*2501C>A	NP_006138.1:n.*2501C>A
NM_006147.4:c.*2501C>A MANE Select	NP_006138.1:n.*2501C>A
NM_001206696.2:c.*2501C>A	NP_001193625.1:n.*2501C>A