Canonical Allele Identifier: CA528645367

Gene: IRF6

Linked Data

• dbSNP Id: rs1251734053
• gnomAD v2: 1-209959685-C-T
• gnomAD v3: 1-209786340-C-T
• gnomAD v4: 1-209786340-C-T
• MyVariant Identifiers: chr1:g.209959685C>T (hg19) ; chr1:g.209786340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786340C>T , CM000663.2:g.209786340C>T	GRCh38
NC_000001.10:g.209959685C>T , CM000663.1:g.209959685C>T	GRCh37
NC_000001.9:g.208026308C>T	NCBI36
NG_007081.2:g.24795G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2084G>A	ENSP00000512426.1:n.1400+2084G>A
ENST00000696134.1:c.*2911G>A	ENSP00000512427.1:n.*2911G>A
ENST00000367021.8:c.*2080G>A MANE Select	ENSP00000355988.3:n.*2080G>A
ENST00000367021.7:c.*2080G>A	ENSP00000355988.3:n.*2080G>A
ENST00000542854.5:c.*2080G>A	ENSP00000440532.1:n.*2080G>A
NM_001206696.1:c.*2080G>A	NP_001193625.1:n.*2080G>A
NM_006147.3:c.*2080G>A	NP_006138.1:n.*2080G>A
NM_006147.4:c.*2080G>A MANE Select	NP_006138.1:n.*2080G>A
NM_001206696.2:c.*2080G>A	NP_001193625.1:n.*2080G>A