Canonical Allele Identifier: CA10608910

Gene: IRF6

Linked Data

• ClinVar Variation Id: 295218
• ClinVar RCV Id: RCV000309443 ; RCV000366491
• dbSNP Id: rs886045887
• gnomAD v2: 1-209979515-G-C
• gnomAD v3: 1-209806170-G-C
• gnomAD v4: 1-209806170-G-C
• MyVariant Identifiers: chr1:g.209979515G>C (hg19) ; chr1:g.209806170G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209806170G>C , CM000663.2:g.209806170G>C	GRCh38
NC_000001.10:g.209979515G>C , CM000663.1:g.209979515G>C	GRCh37
NC_000001.9:g.208046138G>C	NCBI36
NG_007081.2:g.4965C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.-299C>G	ENSP00000512426.1:n.-299C>G
ENST00000542854.5:c.-335C>G	ENSP00000440532.1:n.-335C>G
NM_001206696.1:c.-335C>G	NP_001193625.1:n.-335C>G
NM_006147.3:c.-299C>G	NP_006138.1:n.-299C>G