Canonical Allele Identifier: CA730852123

Gene: IRF6

Linked Data

• dbSNP Id: rs1159926869
• gnomAD v3: 1-209786114-C-G
• gnomAD v4: 1-209786114-C-G
• MyVariant Identifiers: chr1:g.209959459C>G (hg19) ; chr1:g.209786114C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786114C>G , CM000663.2:g.209786114C>G	GRCh38
NC_000001.10:g.209959459C>G , CM000663.1:g.209959459C>G	GRCh37
NC_000001.9:g.208026082C>G	NCBI36
NG_007081.2:g.25021G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2310G>C	ENSP00000512426.1:n.1400+2310G>C
ENST00000696134.1:c.*3137G>C	ENSP00000512427.1:n.*3137G>C
ENST00000367021.8:c.*2306G>C MANE Select	ENSP00000355988.3:n.*2306G>C
ENST00000367021.7:c.*2306G>C	ENSP00000355988.3:n.*2306G>C
ENST00000542854.5:c.*2306G>C	ENSP00000440532.1:n.*2306G>C
NM_001206696.1:c.*2306G>C	NP_001193625.1:n.*2306G>C
NM_006147.3:c.*2306G>C	NP_006138.1:n.*2306G>C
NM_006147.4:c.*2306G>C MANE Select	NP_006138.1:n.*2306G>C
NM_001206696.2:c.*2306G>C	NP_001193625.1:n.*2306G>C