Canonical Allele Identifier: CA169426598
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1037388440
gnomAD v3: 7-155812381-A-G
gnomAD v4: 7-155812381-A-G
MyVariant Identifiers: chr7:g.155605075A>G (hg19) chr7:g.155812381A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812381A>G , CM000669.2:g.155812381A>G GRCh38
NC_000007.13:g.155605075A>G , CM000669.1:g.155605075A>G GRCh37
NC_000007.12:g.155297836A>G NCBI36
NG_007504.2:g.4893T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-259T>C MANE Select ENSP00000297261.2:n.-259T>C
NM_000193.4:c.-259T>C MANE Select NP_000184.1:n.-259T>C
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