Canonical Allele Identifier: CA578815609

Gene: SHH

Linked Data

• dbSNP Id: rs1253332495
• gnomAD v2: 7-155593359-C-T
• gnomAD v3: 7-155800665-C-T
• gnomAD v4: 7-155800665-C-T
• MyVariant Identifiers: chr7:g.155593359C>T (hg19) ; chr7:g.155800665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155800665C>T , CM000669.2:g.155800665C>T	GRCh38
NC_000007.13:g.155593359C>T , CM000669.1:g.155593359C>T	GRCh37
NC_000007.12:g.155286120C>T	NCBI36
NG_007504.2:g.16609G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.*2235G>A MANE Select	ENSP00000297261.2:n.*2235G>A
ENST00000297261.6:c.*2235G>A	ENSP00000297261.2:n.*2235G>A
ENST00000430104.5:c.302-420G>A	ENSP00000396621.1:n.302-420G>A
ENST00000435425.1:c.302-68G>A	ENSP00000413871.1:n.302-68G>A
ENST00000441114.5:c.304G>A	ENSP00000410546.1:p.Gly102Ser
NM_001310462.1:c.302-420G>A	NP_001297391.1:n.302-420G>A
NR_132318.1:n.474G>A
NR_132319.1:n.472-68G>A
XR_928240.1:n.1206G>A
NM_000193.4:c.*2235G>A MANE Select	NP_000184.1:n.*2235G>A
NM_001310462.2:c.302-420G>A	NP_001297391.1:n.302-420G>A
NR_132318.2:n.565G>A
NR_132319.2:n.563-68G>A