Canonical Allele Identifier: CA340829
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 8879
ClinVar RCV Id: RCV000009429
dbSNP Id: rs104894045
MyVariant Identifiers: chr7:g.155599239T>A (hg19) chr7:g.155806545T>A (hg38)
PubMed: PMID:8896572 PMID:20301702
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155806545T>A , CM000669.2:g.155806545T>A GRCh38
NC_000007.13:g.155599239T>A , CM000669.1:g.155599239T>A GRCh37
NC_000007.12:g.155292000T>A NCBI36
NG_007504.2:g.10729A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.313A>T MANE Select ENSP00000297261.2:p.Lys105Ter
ENST00000297261.6:c.313A>T ENSP00000297261.2:p.Lys105Ter
ENST00000430104.5:c.52A>T ENSP00000396621.1:p.Lys18Ter
ENST00000435425.1:c.52A>T ENSP00000413871.1:p.Lys18Ter
ENST00000441114.5:c.52A>T ENSP00000410546.1:p.Lys18Ter
NM_000193.2:c.313A>T NP_000184.1:p.Lys105Ter
NM_000193.3:c.313A>T NP_000184.1:p.Lys105Ter
NM_001310462.1:c.52A>T NP_001297391.1:p.Lys18Ter
NR_132318.1:n.222A>T
NR_132319.1:n.222A>T
XM_011516479.1:c.52A>T XP_011514781.1:p.Lys18Ter
XM_011516480.1:c.52A>T XP_011514782.1:p.Lys18Ter
XM_011516481.1:c.52A>T XP_011514783.1:p.Lys18Ter
XM_011516482.1:c.-27A>T XP_011514784.1:n.-27A>T
XM_011516479.2:c.52A>T XP_011514781.1:p.Lys18Ter
XM_011516480.2:c.52A>T XP_011514782.1:p.Lys18Ter
NM_000193.4:c.313A>T MANE Select NP_000184.1:p.Lys105Ter
NM_001310462.2:c.52A>T NP_001297391.1:p.Lys18Ter
NR_132318.2:n.313A>T
NR_132319.2:n.313A>T
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