Canonical Allele Identifier: CA119989

Gene: SHH

Linked Data

• ClinVar Variation Id: 8895
• ClinVar RCV Id: RCV000009445 ; RCV000009446 ; RCV000263828
• dbSNP Id: rs104894053
• MyVariant Identifiers: chr7:g.155599169C>T (hg19) ; chr7:g.155806475C>T (hg38)
• PubMed: PMID:12567406

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806475C>T , CM000669.2:g.155806475C>T	GRCh38
NC_000007.13:g.155599169C>T , CM000669.1:g.155599169C>T	GRCh37
NC_000007.12:g.155291930C>T	NCBI36
NG_007504.2:g.10799G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.383G>A MANE Select	ENSP00000297261.2:p.Trp128Ter
ENST00000297261.6:c.383G>A	ENSP00000297261.2:p.Trp128Ter
ENST00000430104.5:c.122G>A	ENSP00000396621.1:p.Trp41Ter
ENST00000435425.1:c.122G>A	ENSP00000413871.1:p.Trp41Ter
ENST00000441114.5:c.122G>A	ENSP00000410546.1:p.Trp41Ter
NM_000193.2:c.383G>A	NP_000184.1:p.Trp128Ter
NM_000193.3:c.383G>A	NP_000184.1:p.Trp128Ter
NM_001310462.1:c.122G>A	NP_001297391.1:p.Trp41Ter
NR_132318.1:n.292G>A
NR_132319.1:n.292G>A
XM_011516479.1:c.122G>A	XP_011514781.1:p.Trp41Ter
XM_011516480.1:c.122G>A	XP_011514782.1:p.Trp41Ter
XM_011516481.1:c.122G>A	XP_011514783.1:p.Trp41Ter
XM_011516482.1:c.44G>A	XP_011514784.1:p.Trp15Ter
XM_011516479.2:c.122G>A	XP_011514781.1:p.Trp41Ter
XM_011516480.2:c.122G>A	XP_011514782.1:p.Trp41Ter
NM_000193.4:c.383G>A MANE Select	NP_000184.1:p.Trp128Ter
NM_001310462.2:c.122G>A	NP_001297391.1:p.Trp41Ter
NR_132318.2:n.383G>A
NR_132319.2:n.383G>A