Canonical Allele Identifier: CA36751579

Gene: IRF6

Linked Data

• dbSNP Id: rs762312608
• gnomAD v2: 1-209959563-A-G
• gnomAD v3: 1-209786218-A-G
• gnomAD v4: 1-209786218-A-G
• MyVariant Identifiers: chr1:g.209959563A>G (hg19) ; chr1:g.209786218A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786218A>G , CM000663.2:g.209786218A>G	GRCh38
NC_000001.10:g.209959563A>G , CM000663.1:g.209959563A>G	GRCh37
NC_000001.9:g.208026186A>G	NCBI36
NG_007081.2:g.24917T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2206T>C	ENSP00000512426.1:n.1400+2206T>C
ENST00000696134.1:c.*3033T>C	ENSP00000512427.1:n.*3033T>C
ENST00000367021.8:c.*2202T>C MANE Select	ENSP00000355988.3:n.*2202T>C
ENST00000367021.7:c.*2202T>C	ENSP00000355988.3:n.*2202T>C
ENST00000542854.5:c.*2202T>C	ENSP00000440532.1:n.*2202T>C
NM_001206696.1:c.*2202T>C	NP_001193625.1:n.*2202T>C
NM_006147.3:c.*2202T>C	NP_006138.1:n.*2202T>C
NM_006147.4:c.*2202T>C MANE Select	NP_006138.1:n.*2202T>C
NM_001206696.2:c.*2202T>C	NP_001193625.1:n.*2202T>C