Canonical Allele Identifier: CA367321517

Gene: GLI3

Linked Data

• dbSNP Id: rs142249104
• gnomAD v4: 7-41967794-C-G
• MyVariant Identifiers: chr7:g.42007392C>G (hg19) ; chr7:g.41967794C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41967794C>G , CM000669.2:g.41967794C>G	GRCh38
NC_000007.13:g.42007392C>G , CM000669.1:g.42007392C>G	GRCh37
NC_000007.12:g.41973917C>G	NCBI36
NG_008434.1:g.274227G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2233G>C MANE Select	ENSP00000379258.3:p.Asp745His
ENST00000677288.1:c.2059G>C	ENSP00000503986.1:p.Asp687His
ENST00000677605.1:c.2233G>C	ENSP00000503743.1:p.Asp745His
ENST00000678429.1:c.2233G>C	ENSP00000502957.1:p.Asp745His
ENST00000395925.7:c.2233G>C	ENSP00000379258.3:p.Asp745His
ENST00000479210.1:n.2210G>C
NM_000168.5:c.2233G>C	NP_000159.3:p.Asp745His
XM_005249703.1:c.2233G>C	XP_005249760.1:p.Asp745His
XM_005249704.2:c.2233G>C	XP_005249761.1:p.Asp745His
XM_011515272.1:c.2233G>C	XP_011513574.1:p.Asp745His
XM_011515273.1:c.2233G>C	XP_011513575.1:p.Asp745His
XM_011515274.1:c.2056G>C	XP_011513576.1:p.Asp686His
XM_011515274.2:c.2056G>C	XP_011513576.1:p.Asp686His
XM_017011997.1:c.2230G>C	XP_016867486.1:p.Asp744His
NM_000168.6:c.2233G>C MANE Select	NP_000159.3:p.Asp745His