Canonical Allele Identifier: CA345206

Gene: SHH

Linked Data

• ClinVar Variation Id: 65872
• ClinVar RCV Id: RCV000056117
• dbSNP Id: rs146990376
• MyVariant Identifiers: chr7:g.155599078G>C (hg19) ; chr7:g.155806384G>C (hg38)
• PubMed: PMID:10441331 ; PMID:20301702

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806384G>C , CM000669.2:g.155806384G>C	GRCh38
NC_000007.13:g.155599078G>C , CM000669.1:g.155599078G>C	GRCh37
NC_000007.12:g.155291839G>C	NCBI36
NG_007504.2:g.10890C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.474C>G MANE Select	ENSP00000297261.2:p.Tyr158Ter
ENST00000297261.6:c.474C>G	ENSP00000297261.2:p.Tyr158Ter
ENST00000430104.5:c.213C>G	ENSP00000396621.1:p.Tyr71Ter
ENST00000435425.1:c.213C>G	ENSP00000413871.1:p.Tyr71Ter
ENST00000441114.5:c.213C>G	ENSP00000410546.1:p.Tyr71Ter
NM_000193.2:c.474C>G	NP_000184.1:p.Tyr158Ter
NM_000193.3:c.474C>G	NP_000184.1:p.Tyr158Ter
NM_001310462.1:c.213C>G	NP_001297391.1:p.Tyr71Ter
NR_132318.1:n.383C>G
NR_132319.1:n.383C>G
XM_011516479.1:c.213C>G	XP_011514781.1:p.Tyr71Ter
XM_011516480.1:c.213C>G	XP_011514782.1:p.Tyr71Ter
XM_011516481.1:c.213C>G	XP_011514783.1:p.Tyr71Ter
XM_011516482.1:c.135C>G	XP_011514784.1:p.Tyr45Ter
XM_011516479.2:c.213C>G	XP_011514781.1:p.Tyr71Ter
XM_011516480.2:c.213C>G	XP_011514782.1:p.Tyr71Ter
NM_000193.4:c.474C>G MANE Select	NP_000184.1:p.Tyr158Ter
NM_001310462.2:c.213C>G	NP_001297391.1:p.Tyr71Ter
NR_132318.2:n.474C>G
NR_132319.2:n.474C>G