Canonical Allele Identifier: CA119988

Gene: SHH

Linked Data

• ClinVar Variation Id: 8894
• ClinVar RCV Id: RCV000009444
• dbSNP Id: rs104894052
• gnomAD v4: 7-155803294-A-G
• MyVariant Identifiers: chr7:g.155595988A>G (hg19) ; chr7:g.155803294A>G (hg38)
• PubMed: PMID:15103725

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803294A>G , CM000669.2:g.155803294A>G	GRCh38
NC_000007.13:g.155595988A>G , CM000669.1:g.155595988A>G	GRCh37
NC_000007.12:g.155288749A>G	NCBI36
NG_007504.2:g.13980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.995T>C MANE Select	ENSP00000297261.2:p.Val332Ala
ENST00000297261.6:c.995T>C	ENSP00000297261.2:p.Val332Ala
ENST00000430104.5:c.301+3002T>C	ENSP00000396621.1:n.301+3002T>C
ENST00000435425.1:c.302-2697T>C	ENSP00000413871.1:n.302-2697T>C
ENST00000441114.5:c.302-2627T>C	ENSP00000410546.1:n.302-2627T>C
NM_000193.2:c.995T>C	NP_000184.1:p.Val332Ala
NM_000193.3:c.995T>C	NP_000184.1:p.Val332Ala
NM_001310462.1:c.301+3002T>C	NP_001297391.1:n.301+3002T>C
NR_132318.1:n.472-2627T>C
NR_132319.1:n.472-2697T>C
XM_011516479.1:c.734T>C	XP_011514781.1:p.Val245Ala
XM_011516480.1:c.734T>C	XP_011514782.1:p.Val245Ala
XM_011516481.1:c.734T>C	XP_011514783.1:p.Val245Ala
XM_011516482.1:c.656T>C	XP_011514784.1:p.Val219Ala
XM_011516479.2:c.734T>C	XP_011514781.1:p.Val245Ala
XM_011516480.2:c.734T>C	XP_011514782.1:p.Val245Ala
NM_000193.4:c.995T>C MANE Select	NP_000184.1:p.Val332Ala
NM_001310462.2:c.301+3002T>C	NP_001297391.1:n.301+3002T>C
NR_132318.2:n.563-2627T>C
NR_132319.2:n.563-2697T>C