Canonical Allele Identifier: CA4587075
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs756628434
ExAC: 7:155604555 C / T
gnomAD v2: 7-155604555-C-T
MyVariant Identifiers: chr7:g.155604555C>T (hg19) chr7:g.155811861C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811861C>T , CM000669.2:g.155811861C>T GRCh38
NC_000007.13:g.155604555C>T , CM000669.1:g.155604555C>T GRCh37
NC_000007.12:g.155297316C>T NCBI36
NG_007504.2:g.5413G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.262G>A MANE Select ENSP00000297261.2:p.Asp88Asn
ENST00000297261.6:c.262G>A ENSP00000297261.2:p.Asp88Asn
NM_000193.2:c.262G>A NP_000184.1:p.Asp88Asn
NM_000193.3:c.262G>A NP_000184.1:p.Asp88Asn
NM_000193.4:c.262G>A MANE Select NP_000184.1:p.Asp88Asn
Search 100 bp 5'
Search 100 bp 3'