Canonical Allele Identifier: CA423030412

Gene: IRF6

Linked Data

• gnomAD v4: 1-209796388-C-G
• MyVariant Identifiers: chr1:g.209969733C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209796388C>G , CM000663.2:g.209796388C>G	GRCh38
NC_000001.10:g.209969733C>G , CM000663.1:g.209969733C>G	GRCh37
NC_000001.9:g.208036356C>G	NCBI36
NG_007081.2:g.14747G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.339G>C	ENSP00000512426.1:p.Val113=
ENST00000696134.1:c.339G>C	ENSP00000512427.1:p.Val113=
ENST00000367021.8:c.339G>C MANE Select	ENSP00000355988.3:p.Val113=
ENST00000643798.1:c.339G>C	ENSP00000496669.1:p.Val113=
ENST00000367021.7:c.339G>C	ENSP00000355988.3:p.Val113=
ENST00000456314.1:c.339G>C	ENSP00000403855.1:p.Val113=
ENST00000542854.5:c.54G>C	ENSP00000440532.1:p.Val18=
NM_001206696.1:c.54G>C	NP_001193625.1:p.Val18=
NM_006147.3:c.339G>C	NP_006138.1:p.Val113=
NM_006147.4:c.339G>C MANE Select	NP_006138.1:p.Val113=
NM_001206696.2:c.54G>C	NP_001193625.1:p.Val18=