Canonical Allele Identifier: CA4587101
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 983024
ClinVar RCV Id: RCV001262829 RCV002541599 RCV003135902
dbSNP Id: rs760920236
ExAC: 7:155604773 G / C
gnomAD v2: 7-155604773-G-C
gnomAD v3: 7-155812079-G-C
gnomAD v4: 7-155812079-G-C
MyVariant Identifiers: chr7:g.155604773G>C (hg19) chr7:g.155812079G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812079G>C , CM000669.2:g.155812079G>C GRCh38
NC_000007.13:g.155604773G>C , CM000669.1:g.155604773G>C GRCh37
NC_000007.12:g.155297534G>C NCBI36
NG_007504.2:g.5195C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.44C>G MANE Select ENSP00000297261.2:p.Ser15Trp
ENST00000297261.6:c.44C>G ENSP00000297261.2:p.Ser15Trp
NM_000193.2:c.44C>G NP_000184.1:p.Ser15Trp
NM_000193.3:c.44C>G NP_000184.1:p.Ser15Trp
NM_000193.4:c.44C>G MANE Select NP_000184.1:p.Ser15Trp
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