Canonical Allele Identifier: CA1754784867
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803540385
gnomAD v4: 7-155812267-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812267G>A , CM000669.2:g.155812267G>A GRCh38
NC_000007.13:g.155604961G>A , CM000669.1:g.155604961G>A GRCh37
NC_000007.12:g.155297722G>A NCBI36
NG_007504.2:g.5007C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-145C>T MANE Select ENSP00000297261.2:n.-145C>T
ENST00000297261.6:c.-145C>T ENSP00000297261.2:n.-145C>T
NM_000193.2:c.-145C>T NP_000184.1:n.-145C>T
NM_000193.3:c.-145C>T NP_000184.1:n.-145C>T
NM_000193.4:c.-145C>T MANE Select NP_000184.1:n.-145C>T
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