Canonical Allele Identifier: CA156903951

Gene: GLI3

Linked Data

• dbSNP Id: rs373688469
• gnomAD v4: 7-41965602-G-A
• MyVariant Identifiers: chr7:g.42005200G>A (hg19) ; chr7:g.41965602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.41965602G>A , CM000669.2:g.41965602G>A	GRCh38
NC_000007.13:g.42005200G>A , CM000669.1:g.42005200G>A	GRCh37
NC_000007.12:g.41971725G>A	NCBI36
NG_008434.1:g.276419C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000395925.8:c.3471C>T MANE Select	ENSP00000379258.3:p.Asp1157=
ENST00000677288.1:c.3297C>T	ENSP00000503986.1:p.Asp1099=
ENST00000677605.1:c.3471C>T	ENSP00000503743.1:p.Asp1157=
ENST00000678429.1:c.3471C>T	ENSP00000502957.1:p.Asp1157=
ENST00000395925.7:c.3471C>T	ENSP00000379258.3:p.Asp1157=
ENST00000479210.1:n.3448C>T
NM_000168.5:c.3471C>T	NP_000159.3:p.Asp1157=
XM_005249703.1:c.3471C>T	XP_005249760.1:p.Asp1157=
XM_005249704.2:c.3471C>T	XP_005249761.1:p.Asp1157=
XM_011515272.1:c.3471C>T	XP_011513574.1:p.Asp1157=
XM_011515273.1:c.3471C>T	XP_011513575.1:p.Asp1157=
XM_011515274.1:c.3294C>T	XP_011513576.1:p.Asp1098=
XM_011515274.2:c.3294C>T	XP_011513576.1:p.Asp1098=
XM_017011997.1:c.3468C>T	XP_016867486.1:p.Asp1156=
NM_000168.6:c.3471C>T MANE Select	NP_000159.3:p.Asp1157=