Canonical Allele Identifier: CA36754830

Gene: IRF6

Linked Data

• dbSNP Id: rs752030700
• gnomAD v4: 1-209796390-C-G
• MyVariant Identifiers: chr1:g.209969735C>G (hg19) ; chr1:g.209796390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209796390C>G , CM000663.2:g.209796390C>G	GRCh38
NC_000001.10:g.209969735C>G , CM000663.1:g.209969735C>G	GRCh37
NC_000001.9:g.208036358C>G	NCBI36
NG_007081.2:g.14745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.337G>C	ENSP00000512426.1:p.Val113Leu
ENST00000696134.1:c.337G>C	ENSP00000512427.1:p.Val113Leu
ENST00000367021.8:c.337G>C MANE Select	ENSP00000355988.3:p.Val113Leu
ENST00000643798.1:c.337G>C	ENSP00000496669.1:p.Val113Leu
ENST00000367021.7:c.337G>C	ENSP00000355988.3:p.Val113Leu
ENST00000456314.1:c.337G>C	ENSP00000403855.1:p.Val113Leu
ENST00000542854.5:c.52G>C	ENSP00000440532.1:p.Val18Leu
NM_001206696.1:c.52G>C	NP_001193625.1:p.Val18Leu
NM_006147.3:c.337G>C	NP_006138.1:p.Val113Leu
NM_006147.4:c.337G>C MANE Select	NP_006138.1:p.Val113Leu
NM_001206696.2:c.52G>C	NP_001193625.1:p.Val18Leu