Canonical Allele Identifier: CA578816854
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1401917353
gnomAD v2: 7-155604875-G-A
gnomAD v3: 7-155812181-G-A
gnomAD v4: 7-155812181-G-A
MyVariant Identifiers: chr7:g.155604875G>A (hg19) chr7:g.155812181G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812181G>A , CM000669.2:g.155812181G>A GRCh38
NC_000007.13:g.155604875G>A , CM000669.1:g.155604875G>A GRCh37
NC_000007.12:g.155297636G>A NCBI36
NG_007504.2:g.5093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-59C>T MANE Select ENSP00000297261.2:n.-59C>T
ENST00000297261.6:c.-59C>T ENSP00000297261.2:n.-59C>T
NM_000193.2:c.-59C>T NP_000184.1:n.-59C>T
NM_000193.3:c.-59C>T NP_000184.1:n.-59C>T
NM_000193.4:c.-59C>T MANE Select NP_000184.1:n.-59C>T
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