Canonical Allele Identifier: CA1702690957
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs778394678
gnomAD v4: 7-42040009-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.42040009A>C , CM000669.2:g.42040009A>C GRCh38
NC_000007.13:g.42079608A>C , CM000669.1:g.42079608A>C GRCh37
NC_000007.12:g.42046133A>C NCBI36
NG_008434.1:g.202011T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395925.8:c.1028+29T>G MANE Select ENSP00000379258.3:n.1028+29T>G
ENST00000677288.1:c.851+29T>G ENSP00000503986.1:n.851+29T>G
ENST00000677605.1:c.1028+29T>G ENSP00000503743.1:n.1028+29T>G
ENST00000678429.1:c.1028+29T>G ENSP00000502957.1:n.1028+29T>G
ENST00000395925.7:c.1028+29T>G ENSP00000379258.3:n.1028+29T>G
ENST00000479210.1:n.1005+29T>G
NM_000168.5:c.1028+29T>G NP_000159.3:n.1028+29T>G
XM_005249703.1:c.1028+29T>G XP_005249760.1:n.1028+29T>G
XM_005249704.2:c.1028+29T>G XP_005249761.1:n.1028+29T>G
XM_011515272.1:c.1028+29T>G XP_011513574.1:n.1028+29T>G
XM_011515273.1:c.1028+29T>G XP_011513575.1:n.1028+29T>G
XM_011515274.1:c.851+29T>G XP_011513576.1:n.851+29T>G
XM_011515274.2:c.851+29T>G XP_011513576.1:n.851+29T>G
XM_017011997.1:c.1025+29T>G XP_016867486.1:n.1025+29T>G
NM_000168.6:c.1028+29T>G MANE Select NP_000159.3:n.1028+29T>G