Canonical Allele Identifier: CA671710329

Gene: POU2AF1

Linked Data

• dbSNP Id: rs1381874684
• gnomAD v3: 11-111352295-G-C
• gnomAD v4: 11-111352295-G-C
• MyVariant Identifiers: chr11:g.111223020G>C (hg19) ; chr11:g.111352295G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.111352295G>C , CM000673.2:g.111352295G>C	GRCh38
NC_000011.9:g.111223020G>C , CM000673.1:g.111223020G>C	GRCh37
NC_000011.8:g.110728230G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393067.8:c.*1966C>G MANE Select	ENSP00000376786.3:n.*1966C>G
ENST00000393067.7:c.*1966C>G	ENSP00000376786.3:n.*1966C>G
NM_006235.2:c.*1966C>G	NP_006226.2:n.*1966C>G
XM_005271593.1:c.*1966C>G	XP_005271650.1:n.*1966C>G
XM_005271594.3:c.*1966C>G	XP_005271651.1:n.*1966C>G
XM_006718859.1:c.*1966C>G	XP_006718922.1:n.*1966C>G
XM_005271593.2:c.*1966C>G	XP_005271650.1:n.*1966C>G
XM_006718860.4:c.*4121C>G	XP_006718923.1:n.*4121C>G
XM_017017932.1:c.*4121C>G	XP_016873421.1:n.*4121C>G
NM_006235.3:c.*1966C>G MANE Select	NP_006226.2:n.*1966C>G