Canonical Allele Identifier: CA344572553

Gene: IRF6

Linked Data

• gnomAD v4: 1-209788439-G-A
• MyVariant Identifiers: chr1:g.209961784G>A (hg19) ; chr1:g.209788439G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788439G>A , CM000663.2:g.209788439G>A	GRCh38
NC_000001.10:g.209961784G>A , CM000663.1:g.209961784G>A	GRCh37
NC_000001.9:g.208028407G>A	NCBI36
NG_007081.2:g.22696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1385C>T	ENSP00000512426.1:p.Pro462Leu
ENST00000696134.1:c.*812C>T	ENSP00000512427.1:n.*812C>T
ENST00000367021.8:c.1385C>T MANE Select	ENSP00000355988.3:p.Pro462Leu
ENST00000643798.1:c.*895C>T	ENSP00000496669.1:n.*895C>T
ENST00000367021.7:c.1385C>T	ENSP00000355988.3:p.Pro462Leu
ENST00000542854.5:c.1100C>T	ENSP00000440532.1:p.Pro367Leu
NM_001206696.1:c.1100C>T	NP_001193625.1:p.Pro367Leu
NM_006147.3:c.1385C>T	NP_006138.1:p.Pro462Leu
NM_006147.4:c.1385C>T MANE Select	NP_006138.1:p.Pro462Leu
NM_001206696.2:c.1100C>T	NP_001193625.1:p.Pro367Leu