Canonical Allele Identifier: CA1377209

Gene: IRF6

Linked Data

• ClinVar Variation Id: 1291060
• ClinVar RCV Id: RCV001715703
• dbSNP Id: rs2235373
• ExAC: 1:209963803 G / A
• gnomAD v2: 1-209963803-G-A
• gnomAD v3: 1-209790458-G-A
• gnomAD v4: 1-209790458-G-A
• MyVariant Identifiers: chr1:g.209963803G>A (hg19) ; chr1:g.209790458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790458G>A , CM000663.2:g.209790458G>A	GRCh38
NC_000001.10:g.209963803G>A , CM000663.1:g.209963803G>A	GRCh37
NC_000001.9:g.208030426G>A	NCBI36
NG_007081.2:g.20677C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1060+37C>T	ENSP00000512426.1:n.1060+37C>T
ENST00000696134.1:c.*487+37C>T	ENSP00000512427.1:n.*487+37C>T
ENST00000367021.8:c.1060+37C>T MANE Select	ENSP00000355988.3:n.1060+37C>T
ENST00000643798.1:c.*570+37C>T	ENSP00000496669.1:n.*570+37C>T
ENST00000367021.7:c.1060+37C>T	ENSP00000355988.3:n.1060+37C>T
ENST00000542854.5:c.775+37C>T	ENSP00000440532.1:n.775+37C>T
NM_001206696.1:c.775+37C>T	NP_001193625.1:n.775+37C>T
NM_006147.3:c.1060+37C>T	NP_006138.1:n.1060+37C>T
NM_006147.4:c.1060+37C>T MANE Select	NP_006138.1:n.1060+37C>T
NM_001206696.2:c.775+37C>T	NP_001193625.1:n.775+37C>T