Canonical Allele Identifier: CA2650338189
Gene: IRF6 HGNC NCBI

Linked Data

gnomAD v4: 1-209786344-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786344C>A , CM000663.2:g.209786344C>A GRCh38
NC_000001.10:g.209959689C>A , CM000663.1:g.209959689C>A GRCh37
NC_000001.9:g.208026312C>A NCBI36
NG_007081.2:g.24791G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1400+2080G>T ENSP00000512426.1:n.1400+2080G>T
ENST00000696134.1:c.*2907G>T ENSP00000512427.1:n.*2907G>T
ENST00000367021.8:c.*2076G>T MANE Select ENSP00000355988.3:n.*2076G>T
ENST00000367021.7:c.*2076G>T ENSP00000355988.3:n.*2076G>T
ENST00000542854.5:c.*2076G>T ENSP00000440532.1:n.*2076G>T
NM_001206696.1:c.*2076G>T NP_001193625.1:n.*2076G>T
NM_006147.3:c.*2076G>T NP_006138.1:n.*2076G>T
NM_006147.4:c.*2076G>T MANE Select NP_006138.1:n.*2076G>T
NM_001206696.2:c.*2076G>T NP_001193625.1:n.*2076G>T
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