Canonical Allele Identifier: CA4231008

Gene: GLI3

Linked Data

• dbSNP Id: rs781472475
• ExAC: 7:42079700 T / C
• gnomAD v2: 7-42079700-T-C
• gnomAD v4: 7-42040101-T-C
• MyVariant Identifiers: chr7:g.42079700T>C (hg19) ; chr7:g.42040101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42040101T>C , CM000669.2:g.42040101T>C	GRCh38
NC_000007.13:g.42079700T>C , CM000669.1:g.42079700T>C	GRCh37
NC_000007.12:g.42046225T>C	NCBI36
NG_008434.1:g.201919A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.965A>G MANE Select	ENSP00000379258.3:p.Asn322Ser
ENST00000677288.1:c.788A>G	ENSP00000503986.1:p.Asn263Ser
ENST00000677605.1:c.965A>G	ENSP00000503743.1:p.Asn322Ser
ENST00000678429.1:c.965A>G	ENSP00000502957.1:p.Asn322Ser
ENST00000395925.7:c.965A>G	ENSP00000379258.3:p.Asn322Ser
ENST00000479210.1:n.942A>G
NM_000168.5:c.965A>G	NP_000159.3:p.Asn322Ser
XM_005249703.1:c.965A>G	XP_005249760.1:p.Asn322Ser
XM_005249704.2:c.965A>G	XP_005249761.1:p.Asn322Ser
XM_011515272.1:c.965A>G	XP_011513574.1:p.Asn322Ser
XM_011515273.1:c.965A>G	XP_011513575.1:p.Asn322Ser
XM_011515274.1:c.788A>G	XP_011513576.1:p.Asn263Ser
XM_011515274.2:c.788A>G	XP_011513576.1:p.Asn263Ser
XM_017011997.1:c.962A>G	XP_016867486.1:p.Asn321Ser
NM_000168.6:c.965A>G MANE Select	NP_000159.3:p.Asn322Ser