Canonical Allele Identifier: CA835742245

Gene: SHH

Linked Data

• dbSNP Id: rs1262762867
• gnomAD v4: 7-155812316-G-T
• MyVariant Identifiers: chr7:g.155605010G>T (hg19) ; chr7:g.155812316G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155812316G>T , CM000669.2:g.155812316G>T	GRCh38
NC_000007.13:g.155605010G>T , CM000669.1:g.155605010G>T	GRCh37
NC_000007.12:g.155297771G>T	NCBI36
NG_007504.2:g.4958C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.-194C>A MANE Select	ENSP00000297261.2:n.-194C>A
NM_000193.4:c.-194C>A MANE Select	NP_000184.1:n.-194C>A