Canonical Allele Identifier: CA342921
Gene: GLI3 HGNC NCBI

Linked Data

dbSNP Id: rs116840750
MyVariant Identifiers: chr7:g.42007479G>A (hg19) chr7:g.41967881G>A (hg38)
PubMed: PMID:20301638
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41967881G>A , CM000669.2:g.41967881G>A GRCh38
NC_000007.13:g.42007479G>A , CM000669.1:g.42007479G>A GRCh37
NC_000007.12:g.41974004G>A NCBI36
NG_008434.1:g.274140C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2146C>T MANE Select ENSP00000379258.3:p.Gln716Ter
ENST00000677288.1:c.1972C>T ENSP00000503986.1:p.Gln658Ter
ENST00000677605.1:c.2146C>T ENSP00000503743.1:p.Gln716Ter
ENST00000678429.1:c.2146C>T ENSP00000502957.1:p.Gln716Ter
ENST00000395925.7:c.2146C>T ENSP00000379258.3:p.Gln716Ter
ENST00000479210.1:n.2123C>T
NM_000168.5:c.2146C>T NP_000159.3:p.Gln716Ter
XM_005249703.1:c.2146C>T XP_005249760.1:p.Gln716Ter
XM_005249704.2:c.2146C>T XP_005249761.1:p.Gln716Ter
XM_011515272.1:c.2146C>T XP_011513574.1:p.Gln716Ter
XM_011515273.1:c.2146C>T XP_011513575.1:p.Gln716Ter
XM_011515274.1:c.1969C>T XP_011513576.1:p.Gln657Ter
XM_011515274.2:c.1969C>T XP_011513576.1:p.Gln657Ter
XM_017011997.1:c.2143C>T XP_016867486.1:p.Gln715Ter
NM_000168.6:c.2146C>T MANE Select NP_000159.3:p.Gln716Ter
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