Canonical Allele Identifier: CA730852264

Gene: IRF6

Linked Data

• dbSNP Id: rs1432679242
• gnomAD v3: 1-209786372-T-C
• gnomAD v4: 1-209786372-T-C
• MyVariant Identifiers: chr1:g.209959717T>C (hg19) ; chr1:g.209786372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786372T>C , CM000663.2:g.209786372T>C	GRCh38
NC_000001.10:g.209959717T>C , CM000663.1:g.209959717T>C	GRCh37
NC_000001.9:g.208026340T>C	NCBI36
NG_007081.2:g.24763A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1400+2052A>G	ENSP00000512426.1:n.1400+2052A>G
ENST00000696134.1:c.*2879A>G	ENSP00000512427.1:n.*2879A>G
ENST00000367021.8:c.*2048A>G MANE Select	ENSP00000355988.3:n.*2048A>G
ENST00000367021.7:c.*2048A>G	ENSP00000355988.3:n.*2048A>G
ENST00000542854.5:c.*2048A>G	ENSP00000440532.1:n.*2048A>G
NM_001206696.1:c.*2048A>G	NP_001193625.1:n.*2048A>G
NM_006147.3:c.*2048A>G	NP_006138.1:n.*2048A>G
NM_006147.4:c.*2048A>G MANE Select	NP_006138.1:n.*2048A>G
NM_001206696.2:c.*2048A>G	NP_001193625.1:n.*2048A>G