Canonical Allele Identifier: CA367320317
Gene: GLI3 HGNC NCBI

Linked Data

gnomAD v4: 7-41966274-G-T
MyVariant Identifiers: chr7:g.42005872G>T (hg19) chr7:g.41966274G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.41966274G>T , CM000669.2:g.41966274G>T GRCh38
NC_000007.13:g.42005872G>T , CM000669.1:g.42005872G>T GRCh37
NC_000007.12:g.41972397G>T NCBI36
NG_008434.1:g.275747C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000395925.8:c.2799C>A MANE Select ENSP00000379258.3:p.Tyr933Ter
ENST00000677288.1:c.2625C>A ENSP00000503986.1:p.Tyr875Ter
ENST00000677605.1:c.2799C>A ENSP00000503743.1:p.Tyr933Ter
ENST00000678429.1:c.2799C>A ENSP00000502957.1:p.Tyr933Ter
ENST00000395925.7:c.2799C>A ENSP00000379258.3:p.Tyr933Ter
ENST00000479210.1:n.2776C>A
NM_000168.5:c.2799C>A NP_000159.3:p.Tyr933Ter
XM_005249703.1:c.2799C>A XP_005249760.1:p.Tyr933Ter
XM_005249704.2:c.2799C>A XP_005249761.1:p.Tyr933Ter
XM_011515272.1:c.2799C>A XP_011513574.1:p.Tyr933Ter
XM_011515273.1:c.2799C>A XP_011513575.1:p.Tyr933Ter
XM_011515274.1:c.2622C>A XP_011513576.1:p.Tyr874Ter
XM_011515274.2:c.2622C>A XP_011513576.1:p.Tyr874Ter
XM_017011997.1:c.2796C>A XP_016867486.1:p.Tyr932Ter
NM_000168.6:c.2799C>A MANE Select NP_000159.3:p.Tyr933Ter
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