Canonical Allele Identifier: CA835742222
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1418062116
gnomAD v3: 7-155812290-T-C
gnomAD v4: 7-155812290-T-C
MyVariant Identifiers: chr7:g.155604984T>C (hg19) chr7:g.155812290T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812290T>C , CM000669.2:g.155812290T>C GRCh38
NC_000007.13:g.155604984T>C , CM000669.1:g.155604984T>C GRCh37
NC_000007.12:g.155297745T>C NCBI36
NG_007504.2:g.4984A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-168A>G MANE Select ENSP00000297261.2:n.-168A>G
NM_000193.4:c.-168A>G MANE Select NP_000184.1:n.-168A>G
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