Canonical Allele Identifier: CA342936
Gene: GLI3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 38320
ClinVar RCV Id: RCV000031878
dbSNP Id: rs116840763

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966274G>C , CM000669.2:g.41966274G>C GRCh38
NC_000007.12:g.41972397G>C NCBI36
NC_000007.13:g.42005872G>C , CM000669.1:g.42005872G>C GRCh37
NG_008434.1:g.275747C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.7:c.2799C>G ENSP00000379258.3:p.Tyr933Ter
ENST00000479210.1:n.2776C>G
NM_000168.5:c.2799C>G NP_000159.3:p.Tyr933Ter
XM_005249703.1:c.2799C>G XP_005249760.1:p.Tyr933Ter
XM_005249704.2:c.2799C>G XP_005249761.1:p.Tyr933Ter
XM_011515272.1:c.2799C>G XP_011513574.1:p.Tyr933Ter
XM_011515273.1:c.2799C>G XP_011513575.1:p.Tyr933Ter
XM_011515274.1:c.2622C>G XP_011513576.1:p.Tyr874Ter