Canonical Allele Identifier: CA528645317

Gene: IRF6

Linked Data

• dbSNP Id: rs1241149971
• gnomAD v2: 1-209959129-C-G
• gnomAD v3: 1-209785784-C-G
• gnomAD v4: 1-209785784-C-G
• MyVariant Identifiers: chr1:g.209959129C>G (hg19) ; chr1:g.209785784C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209785784C>G , CM000663.2:g.209785784C>G	GRCh38
NC_000001.10:g.209959129C>G , CM000663.1:g.209959129C>G	GRCh37
NC_000001.9:g.208025752C>G	NCBI36
NG_007081.2:g.25351G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1401-2075G>C	ENSP00000512426.1:n.1401-2075G>C
ENST00000696134.1:c.*3467G>C	ENSP00000512427.1:n.*3467G>C
ENST00000367021.8:c.*2636G>C MANE Select	ENSP00000355988.3:n.*2636G>C
ENST00000367021.7:c.*2636G>C	ENSP00000355988.3:n.*2636G>C
ENST00000542854.5:c.*2636G>C	ENSP00000440532.1:n.*2636G>C
NM_001206696.1:c.*2636G>C	NP_001193625.1:n.*2636G>C
NM_006147.3:c.*2636G>C	NP_006138.1:n.*2636G>C
NM_006147.4:c.*2636G>C MANE Select	NP_006138.1:n.*2636G>C
NM_001206696.2:c.*2636G>C	NP_001193625.1:n.*2636G>C