Canonical Allele Identifier: CA4587094
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs754272598
ExAC: 7:155604727 G / A
gnomAD v2: 7-155604727-G-A
gnomAD v3: 7-155812033-G-A
gnomAD v4: 7-155812033-G-A
MyVariant Identifiers: chr7:g.155604727G>A (hg19) chr7:g.155812033G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812033G>A , CM000669.2:g.155812033G>A GRCh38
NC_000007.13:g.155604727G>A , CM000669.1:g.155604727G>A GRCh37
NC_000007.12:g.155297488G>A NCBI36
NG_007504.2:g.5241C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.90C>T MANE Select ENSP00000297261.2:p.Phe30=
ENST00000297261.6:c.90C>T ENSP00000297261.2:p.Phe30=
NM_000193.2:c.90C>T NP_000184.1:p.Phe30=
NM_000193.3:c.90C>T NP_000184.1:p.Phe30=
NM_000193.4:c.90C>T MANE Select NP_000184.1:p.Phe30=
Search 100 bp 5'
Search 100 bp 3'