Canonical Allele Identifier: CA10609010
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 295169
ClinVar RCV Id: RCV000315623 RCV000379584
dbSNP Id: rs1856161
gnomAD v2: 1-209959168-C-T
gnomAD v3: 1-209785823-C-T
gnomAD v4: 1-209785823-C-T
MyVariant Identifiers: chr1:g.209959168C>T (hg19) chr1:g.209785823C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209785823C>T , CM000663.2:g.209785823C>T GRCh38
NC_000001.10:g.209959168C>T , CM000663.1:g.209959168C>T GRCh37
NC_000001.9:g.208025791C>T NCBI36
NG_007081.2:g.25312G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1401-2114G>A ENSP00000512426.1:n.1401-2114G>A
ENST00000696134.1:c.*3428G>A ENSP00000512427.1:n.*3428G>A
ENST00000367021.8:c.*2597G>A MANE Select ENSP00000355988.3:n.*2597G>A
ENST00000367021.7:c.*2597G>A ENSP00000355988.3:n.*2597G>A
ENST00000542854.5:c.*2597G>A ENSP00000440532.1:n.*2597G>A
NM_001206696.1:c.*2597G>A NP_001193625.1:n.*2597G>A
NM_006147.3:c.*2597G>A NP_006138.1:n.*2597G>A
NM_006147.4:c.*2597G>A MANE Select NP_006138.1:n.*2597G>A
NM_001206696.2:c.*2597G>A NP_001193625.1:n.*2597G>A
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