Canonical Allele Identifier: CA370152400
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 426566
ClinVar RCV Id: RCV000489667
dbSNP Id: rs1085307689
MyVariant Identifiers: chr7:g.155604733C>A (hg19) chr7:g.155812039C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812039C>A , CM000669.2:g.155812039C>A GRCh38
NC_000007.13:g.155604733C>A , CM000669.1:g.155604733C>A GRCh37
NC_000007.12:g.155297494C>A NCBI36
NG_007504.2:g.5235G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.84G>T MANE Select ENSP00000297261.2:p.Arg28Ser
ENST00000297261.6:c.84G>T ENSP00000297261.2:p.Arg28Ser
NM_000193.2:c.84G>T NP_000184.1:p.Arg28Ser
NM_000193.3:c.84G>T NP_000184.1:p.Arg28Ser
NM_000193.4:c.84G>T MANE Select NP_000184.1:p.Arg28Ser
Search 100 bp 5'
Search 100 bp 3'