Canonical Allele Identifier: CA4231077

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360251
• ClinVar RCV Id: RCV000295892 ; RCV000329883 ; RCV000386462 ; RCV001770283 ; RCV003105883
• dbSNP Id: rs202039538
• ExAC: 7:42085061 G / A
• gnomAD v2: 7-42085061-G-A
• gnomAD v3: 7-42045462-G-A
• gnomAD v4: 7-42045462-G-A
• MyVariant Identifiers: chr7:g.42085061G>A (hg19) ; chr7:g.42045462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.42045462G>A , CM000669.2:g.42045462G>A	GRCh38
NC_000007.13:g.42085061G>A , CM000669.1:g.42085061G>A	GRCh37
NC_000007.12:g.42051586G>A	NCBI36
NG_008434.1:g.196558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.748C>T MANE Select	ENSP00000379258.3:p.Pro250Ser
ENST00000677288.1:c.571C>T	ENSP00000503986.1:p.Pro191Ser
ENST00000677605.1:c.748C>T	ENSP00000503743.1:p.Pro250Ser
ENST00000678429.1:c.748C>T	ENSP00000502957.1:p.Pro250Ser
ENST00000395925.7:c.748C>T	ENSP00000379258.3:p.Pro250Ser
ENST00000479210.1:n.725C>T
NM_000168.5:c.748C>T	NP_000159.3:p.Pro250Ser
XM_005249703.1:c.748C>T	XP_005249760.1:p.Pro250Ser
XM_005249704.2:c.748C>T	XP_005249761.1:p.Pro250Ser
XM_011515272.1:c.748C>T	XP_011513574.1:p.Pro250Ser
XM_011515273.1:c.748C>T	XP_011513575.1:p.Pro250Ser
XM_011515274.1:c.571C>T	XP_011513576.1:p.Pro191Ser
XM_011515274.2:c.571C>T	XP_011513576.1:p.Pro191Ser
XM_017011997.1:c.745C>T	XP_016867486.1:p.Pro249Ser
NM_000168.6:c.748C>T MANE Select	NP_000159.3:p.Pro250Ser