Canonical Allele Identifier: CA345251

Gene: SHH

Linked Data

• ClinVar Variation Id: 65911
• ClinVar RCV Id: RCV000056157 ; RCV000251630 ; RCV000724957
• dbSNP Id: rs112055654
• ExAC: 7:155596107 C / T
• gnomAD v2: 7-155596107-C-T
• gnomAD v3: 7-155803413-C-T
• gnomAD v4: 7-155803413-C-T
• MyVariant Identifiers: chr7:g.155596107C>T (hg19) ; chr7:g.155803413C>T (hg38)
• PubMed: PMID:9254845 ; PMID:20301702

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803413C>T , CM000669.2:g.155803413C>T	GRCh38
NC_000007.13:g.155596107C>T , CM000669.1:g.155596107C>T	GRCh37
NC_000007.12:g.155288868C>T	NCBI36
NG_007504.2:g.13861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.876G>A MANE Select	ENSP00000297261.2:p.Gly292=
ENST00000297261.6:c.876G>A	ENSP00000297261.2:p.Gly292=
ENST00000430104.5:c.301+2883G>A	ENSP00000396621.1:n.301+2883G>A
ENST00000435425.1:c.302-2816G>A	ENSP00000413871.1:n.302-2816G>A
ENST00000441114.5:c.302-2746G>A	ENSP00000410546.1:n.302-2746G>A
NM_000193.2:c.876G>A	NP_000184.1:p.Gly292=
NM_000193.3:c.876G>A	NP_000184.1:p.Gly292=
NM_001310462.1:c.301+2883G>A	NP_001297391.1:n.301+2883G>A
NR_132318.1:n.472-2746G>A
NR_132319.1:n.472-2816G>A
XM_011516479.1:c.615G>A	XP_011514781.1:p.Gly205=
XM_011516480.1:c.615G>A	XP_011514782.1:p.Gly205=
XM_011516481.1:c.615G>A	XP_011514783.1:p.Gly205=
XM_011516482.1:c.537G>A	XP_011514784.1:p.Gly179=
XM_011516479.2:c.615G>A	XP_011514781.1:p.Gly205=
XM_011516480.2:c.615G>A	XP_011514782.1:p.Gly205=
NM_000193.4:c.876G>A MANE Select	NP_000184.1:p.Gly292=
NM_001310462.2:c.301+2883G>A	NP_001297391.1:n.301+2883G>A
NR_132318.2:n.563-2746G>A
NR_132319.2:n.563-2816G>A