Canonical Allele Identifier: CA458750865
Gene: SHH HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.155604793C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812099C>T , CM000669.2:g.155812099C>T GRCh38
NC_000007.13:g.155604793C>T , CM000669.1:g.155604793C>T GRCh37
NC_000007.12:g.155297554C>T NCBI36
NG_007504.2:g.5175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.24G>A MANE Select ENSP00000297261.2:p.Leu8=
ENST00000297261.6:c.24G>A ENSP00000297261.2:p.Leu8=
NM_000193.2:c.24G>A NP_000184.1:p.Leu8=
NM_000193.3:c.24G>A NP_000184.1:p.Leu8=
NM_000193.4:c.24G>A MANE Select NP_000184.1:p.Leu8=