Canonical Allele Identifier: CA1377152

Gene: IRF6

Linked Data

• dbSNP Id: rs781337512
• ExAC: 1:209961882 C / G
• gnomAD v2: 1-209961882-C-G
• gnomAD v4: 1-209788537-C-G
• MyVariant Identifiers: chr1:g.209961882C>G (hg19) ; chr1:g.209788537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788537C>G , CM000663.2:g.209788537C>G	GRCh38
NC_000001.10:g.209961882C>G , CM000663.1:g.209961882C>G	GRCh37
NC_000001.9:g.208028505C>G	NCBI36
NG_007081.2:g.22598G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1287G>C	ENSP00000512426.1:p.Lys429Asn
ENST00000696134.1:c.*714G>C	ENSP00000512427.1:n.*714G>C
ENST00000367021.8:c.1287G>C MANE Select	ENSP00000355988.3:p.Lys429Asn
ENST00000643798.1:c.*797G>C	ENSP00000496669.1:n.*797G>C
ENST00000367021.7:c.1287G>C	ENSP00000355988.3:p.Lys429Asn
ENST00000542854.5:c.1002G>C	ENSP00000440532.1:p.Lys334Asn
NM_001206696.1:c.1002G>C	NP_001193625.1:p.Lys334Asn
NM_006147.3:c.1287G>C	NP_006138.1:p.Lys429Asn
NM_006147.4:c.1287G>C MANE Select	NP_006138.1:p.Lys429Asn
NM_001206696.2:c.1002G>C	NP_001193625.1:p.Lys334Asn