Canonical Allele Identifier: CA10623980

Gene: GLI3

Linked Data

• ClinVar Variation Id: 360212
• ClinVar RCV Id: RCV000299795 ; RCV000338396 ; RCV000392631 ; RCV001672695
• dbSNP Id: rs201493390
• gnomAD v2: 7-42003663-T-G
• gnomAD v3: 7-41964065-T-G
• gnomAD v4: 7-41964065-T-G
• MyVariant Identifiers: chr7:g.42003663T>G (hg19) ; chr7:g.41964065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41964065T>G , CM000669.2:g.41964065T>G	GRCh38
NC_000007.13:g.42003663T>G , CM000669.1:g.42003663T>G	GRCh37
NC_000007.12:g.41970188T>G	NCBI36
NG_008434.1:g.277956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395925.8:c.*265A>C MANE Select	ENSP00000379258.3:n.*265A>C
ENST00000677288.1:c.*265A>C	ENSP00000503986.1:n.*265A>C
ENST00000677605.1:c.*265A>C	ENSP00000503743.1:n.*265A>C
ENST00000678429.1:c.*265A>C	ENSP00000502957.1:n.*265A>C
ENST00000395925.7:c.*265A>C	ENSP00000379258.3:n.*265A>C
NM_000168.5:c.*265A>C	NP_000159.3:n.*265A>C
XM_005249703.1:c.*265A>C	XP_005249760.1:n.*265A>C
XM_005249704.2:c.*265A>C	XP_005249761.1:n.*265A>C
XM_011515272.1:c.*265A>C	XP_011513574.1:n.*265A>C
XM_011515273.1:c.*265A>C	XP_011513575.1:n.*265A>C
XM_011515274.1:c.*265A>C	XP_011513576.1:n.*265A>C
NM_000168.6:c.*265A>C MANE Select	NP_000159.3:n.*265A>C