Canonical Allele Identifier: CA4587095
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs755543334
ExAC: 7:155604729 A / C
gnomAD v2: 7-155604729-A-C
gnomAD v3: 7-155812035-A-C
gnomAD v4: 7-155812035-A-C
MyVariant Identifiers: chr7:g.155604729A>C (hg19) chr7:g.155812035A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812035A>C , CM000669.2:g.155812035A>C GRCh38
NC_000007.13:g.155604729A>C , CM000669.1:g.155604729A>C GRCh37
NC_000007.12:g.155297490A>C NCBI36
NG_007504.2:g.5239T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.88T>G MANE Select ENSP00000297261.2:p.Phe30Val
ENST00000297261.6:c.88T>G ENSP00000297261.2:p.Phe30Val
NM_000193.2:c.88T>G NP_000184.1:p.Phe30Val
NM_000193.3:c.88T>G NP_000184.1:p.Phe30Val
NM_000193.4:c.88T>G MANE Select NP_000184.1:p.Phe30Val
Search 100 bp 5'
Search 100 bp 3'