Canonical Allele Identifier: CA16617046
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 418262
ClinVar RCV Id: RCV000483423
dbSNP Id: rs1064793155
MyVariant Identifiers: chr1:g.209961857G>A (hg19) chr1:g.209788512G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788512G>A , CM000663.2:g.209788512G>A GRCh38
NC_000001.10:g.209961857G>A , CM000663.1:g.209961857G>A GRCh37
NC_000001.9:g.208028480G>A NCBI36
NG_007081.2:g.22623C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1312C>T ENSP00000512426.1:p.Gln438Ter
ENST00000696134.1:c.*739C>T ENSP00000512427.1:n.*739C>T
ENST00000367021.8:c.1312C>T MANE Select ENSP00000355988.3:p.Gln438Ter
ENST00000643798.1:c.*822C>T ENSP00000496669.1:n.*822C>T
ENST00000367021.7:c.1312C>T ENSP00000355988.3:p.Gln438Ter
ENST00000542854.5:c.1027C>T ENSP00000440532.1:p.Gln343Ter
NM_001206696.1:c.1027C>T NP_001193625.1:p.Gln343Ter
NM_006147.3:c.1312C>T NP_006138.1:p.Gln438Ter
NM_006147.4:c.1312C>T MANE Select NP_006138.1:p.Gln438Ter
NM_001206696.2:c.1027C>T NP_001193625.1:p.Gln343Ter
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