Canonical Allele Identifier: CA528645322

Gene: IRF6

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209785823C>G , CM000663.2:g.209785823C>G	GRCh38
NC_000001.10:g.209959168C>G , CM000663.1:g.209959168C>G	GRCh37
NC_000001.9:g.208025791C>G	NCBI36
NG_007081.2:g.25312G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1401-2114G>C	ENSP00000512426.1:n.1401-2114G>C
ENST00000696134.1:c.*3428G>C	ENSP00000512427.1:n.*3428G>C
ENST00000367021.8:c.*2597G>C MANE Select	ENSP00000355988.3:n.*2597G>C
ENST00000367021.7:c.*2597G>C	ENSP00000355988.3:n.*2597G>C
ENST00000542854.5:c.*2597G>C	ENSP00000440532.1:n.*2597G>C
NM_001206696.1:c.*2597G>C	NP_001193625.1:n.*2597G>C
NM_006147.3:c.*2597G>C	NP_006138.1:n.*2597G>C
NM_006147.4:c.*2597G>C MANE Select	NP_006138.1:n.*2597G>C
NM_001206696.2:c.*2597G>C	NP_001193625.1:n.*2597G>C