Canonical Allele Identifier: CA367322117

Gene: GLI3

Linked Data

• gnomAD v4: 7-41972446-G-A
• MyVariant Identifiers: chr7:g.42012045G>A (hg19) ; chr7:g.41972446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41972446G>A , CM000669.2:g.41972446G>A	GRCh38
NC_000007.13:g.42012045G>A , CM000669.1:g.42012045G>A	GRCh37
NC_000007.12:g.41978570G>A	NCBI36
NG_008434.1:g.269574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.1994C>T MANE Select	ENSP00000379258.3:p.Pro665Leu
ENST00000677288.1:c.1820C>T	ENSP00000503986.1:p.Pro607Leu
ENST00000677605.1:c.1994C>T	ENSP00000503743.1:p.Pro665Leu
ENST00000678429.1:c.1994C>T	ENSP00000502957.1:p.Pro665Leu
ENST00000395925.7:c.1994C>T	ENSP00000379258.3:p.Pro665Leu
ENST00000464291.1:n.547C>T
ENST00000479210.1:n.1971C>T
NM_000168.5:c.1994C>T	NP_000159.3:p.Pro665Leu
XM_005249703.1:c.1994C>T	XP_005249760.1:p.Pro665Leu
XM_005249704.2:c.1994C>T	XP_005249761.1:p.Pro665Leu
XM_011515272.1:c.1994C>T	XP_011513574.1:p.Pro665Leu
XM_011515273.1:c.1994C>T	XP_011513575.1:p.Pro665Leu
XM_011515274.1:c.1817C>T	XP_011513576.1:p.Pro606Leu
XM_011515274.2:c.1817C>T	XP_011513576.1:p.Pro606Leu
XM_017011997.1:c.1991C>T	XP_016867486.1:p.Pro664Leu
NM_000168.6:c.1994C>T MANE Select	NP_000159.3:p.Pro665Leu