Canonical Allele Identifier: CA344572575

Gene: IRF6

Linked Data

• dbSNP Id: rs1404701973
• gnomAD v3: 1-209788443-G-A
• gnomAD v4: 1-209788443-G-A
• MyVariant Identifiers: chr1:g.209961788G>A (hg19) ; chr1:g.209788443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788443G>A , CM000663.2:g.209788443G>A	GRCh38
NC_000001.10:g.209961788G>A , CM000663.1:g.209961788G>A	GRCh37
NC_000001.9:g.208028411G>A	NCBI36
NG_007081.2:g.22692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1381C>T	ENSP00000512426.1:p.Pro461Ser
ENST00000696134.1:c.*808C>T	ENSP00000512427.1:n.*808C>T
ENST00000367021.8:c.1381C>T MANE Select	ENSP00000355988.3:p.Pro461Ser
ENST00000643798.1:c.*891C>T	ENSP00000496669.1:n.*891C>T
ENST00000367021.7:c.1381C>T	ENSP00000355988.3:p.Pro461Ser
ENST00000542854.5:c.1096C>T	ENSP00000440532.1:p.Pro366Ser
NM_001206696.1:c.1096C>T	NP_001193625.1:p.Pro366Ser
NM_006147.3:c.1381C>T	NP_006138.1:p.Pro461Ser
NM_006147.4:c.1381C>T MANE Select	NP_006138.1:p.Pro461Ser
NM_001206696.2:c.1096C>T	NP_001193625.1:p.Pro366Ser