Canonical Allele Identifier: CA1109097379
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803541793
gnomAD v3: 7-155812343-G-C
gnomAD v4: 7-155812343-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812343G>C , CM000669.2:g.155812343G>C GRCh38
NC_000007.13:g.155605037G>C , CM000669.1:g.155605037G>C GRCh37
NC_000007.12:g.155297798G>C NCBI36
NG_007504.2:g.4931C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-221C>G MANE Select ENSP00000297261.2:n.-221C>G
NM_000193.4:c.-221C>G MANE Select NP_000184.1:n.-221C>G
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