Canonical Allele Identifier: CA367320720

Gene: GLI3

Linked Data

• ClinVar Variation Id: 2631639
• ClinVar RCV Id: RCV003397414
• MyVariant Identifiers: chr7:g.42006061G>T (hg19) ; chr7:g.41966463G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41966463G>T , CM000669.2:g.41966463G>T	GRCh38
NC_000007.13:g.42006061G>T , CM000669.1:g.42006061G>T	GRCh37
NC_000007.12:g.41972586G>T	NCBI36
NG_008434.1:g.275558C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.2610C>A MANE Select	ENSP00000379258.3:p.Cys870Ter
ENST00000677288.1:c.2436C>A	ENSP00000503986.1:p.Cys812Ter
ENST00000677605.1:c.2610C>A	ENSP00000503743.1:p.Cys870Ter
ENST00000678429.1:c.2610C>A	ENSP00000502957.1:p.Cys870Ter
ENST00000395925.7:c.2610C>A	ENSP00000379258.3:p.Cys870Ter
ENST00000479210.1:n.2587C>A
NM_000168.5:c.2610C>A	NP_000159.3:p.Cys870Ter
XM_005249703.1:c.2610C>A	XP_005249760.1:p.Cys870Ter
XM_005249704.2:c.2610C>A	XP_005249761.1:p.Cys870Ter
XM_011515272.1:c.2610C>A	XP_011513574.1:p.Cys870Ter
XM_011515273.1:c.2610C>A	XP_011513575.1:p.Cys870Ter
XM_011515274.1:c.2433C>A	XP_011513576.1:p.Cys811Ter
XM_011515274.2:c.2433C>A	XP_011513576.1:p.Cys811Ter
XM_017011997.1:c.2607C>A	XP_016867486.1:p.Cys869Ter
NM_000168.6:c.2610C>A MANE Select	NP_000159.3:p.Cys870Ter