Canonical Allele Identifier: CA36751586

Gene: IRF6

Linked Data

• dbSNP Id: rs927027933
• MyVariant Identifiers: chr1:g.209959665T>C (hg19) ; chr1:g.209786320T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786320T>C , CM000663.2:g.209786320T>C	GRCh38
NC_000001.10:g.209959665T>C , CM000663.1:g.209959665T>C	GRCh37
NC_000001.9:g.208026288T>C	NCBI36
NG_007081.2:g.24815A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2104A>G	ENSP00000512426.1:n.1400+2104A>G
ENST00000696134.1:c.*2931A>G	ENSP00000512427.1:n.*2931A>G
ENST00000367021.8:c.*2100A>G MANE Select	ENSP00000355988.3:n.*2100A>G
ENST00000367021.7:c.*2100A>G	ENSP00000355988.3:n.*2100A>G
ENST00000542854.5:c.*2100A>G	ENSP00000440532.1:n.*2100A>G
NM_001206696.1:c.*2100A>G	NP_001193625.1:n.*2100A>G
NM_006147.3:c.*2100A>G	NP_006138.1:n.*2100A>G
NM_006147.4:c.*2100A>G MANE Select	NP_006138.1:n.*2100A>G
NM_001206696.2:c.*2100A>G	NP_001193625.1:n.*2100A>G