Canonical Allele Identifier: CA2484364106

Gene: IRF6

Linked Data

• dbSNP Id: rs2077833313
• gnomAD v4: 1-209786312-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786312C>A , CM000663.2:g.209786312C>A	GRCh38
NC_000001.10:g.209959657C>A , CM000663.1:g.209959657C>A	GRCh37
NC_000001.9:g.208026280C>A	NCBI36
NG_007081.2:g.24823G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2112G>T	ENSP00000512426.1:n.1400+2112G>T
ENST00000696134.1:c.*2939G>T	ENSP00000512427.1:n.*2939G>T
ENST00000367021.8:c.*2108G>T MANE Select	ENSP00000355988.3:n.*2108G>T
ENST00000367021.7:c.*2108G>T	ENSP00000355988.3:n.*2108G>T
ENST00000542854.5:c.*2108G>T	ENSP00000440532.1:n.*2108G>T
NM_001206696.1:c.*2108G>T	NP_001193625.1:n.*2108G>T
NM_006147.3:c.*2108G>T	NP_006138.1:n.*2108G>T
NM_006147.4:c.*2108G>T MANE Select	NP_006138.1:n.*2108G>T
NM_001206696.2:c.*2108G>T	NP_001193625.1:n.*2108G>T