Canonical Allele Identifier: CA4587120
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs757530222
ExAC: 7:155604852 C / G
gnomAD v3: 7-155812158-C-G
gnomAD v4: 7-155812158-C-G
MyVariant Identifiers: chr7:g.155604852C>G (hg19) chr7:g.155812158C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812158C>G , CM000669.2:g.155812158C>G GRCh38
NC_000007.13:g.155604852C>G , CM000669.1:g.155604852C>G GRCh37
NC_000007.12:g.155297613C>G NCBI36
NG_007504.2:g.5116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-36G>C MANE Select ENSP00000297261.2:n.-36G>C
ENST00000297261.6:c.-36G>C ENSP00000297261.2:n.-36G>C
NM_000193.2:c.-36G>C NP_000184.1:n.-36G>C
NM_000193.3:c.-36G>C NP_000184.1:n.-36G>C
NM_000193.4:c.-36G>C MANE Select NP_000184.1:n.-36G>C
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