Canonical Allele Identifier: CA458750786

Gene: SHH

Linked Data

• dbSNP Id: rs267607047
• gnomAD v3: 7-155806513-G-A
• gnomAD v4: 7-155806513-G-A
• MyVariant Identifiers: chr7:g.155599207G>A (hg19) ; chr7:g.155806513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806513G>A , CM000669.2:g.155806513G>A	GRCh38
NC_000007.13:g.155599207G>A , CM000669.1:g.155599207G>A	GRCh37
NC_000007.12:g.155291968G>A	NCBI36
NG_007504.2:g.10761C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.345C>T MANE Select	ENSP00000297261.2:p.Asn115=
ENST00000297261.6:c.345C>T	ENSP00000297261.2:p.Asn115=
ENST00000430104.5:c.84C>T	ENSP00000396621.1:p.Asn28=
ENST00000435425.1:c.84C>T	ENSP00000413871.1:p.Asn28=
ENST00000441114.5:c.84C>T	ENSP00000410546.1:p.Asn28=
NM_000193.2:c.345C>T	NP_000184.1:p.Asn115=
NM_000193.3:c.345C>T	NP_000184.1:p.Asn115=
NM_001310462.1:c.84C>T	NP_001297391.1:p.Asn28=
NR_132318.1:n.254C>T
NR_132319.1:n.254C>T
XM_011516479.1:c.84C>T	XP_011514781.1:p.Asn28=
XM_011516480.1:c.84C>T	XP_011514782.1:p.Asn28=
XM_011516481.1:c.84C>T	XP_011514783.1:p.Asn28=
XM_011516482.1:c.6C>T	XP_011514784.1:p.Asn2=
XM_011516479.2:c.84C>T	XP_011514781.1:p.Asn28=
XM_011516480.2:c.84C>T	XP_011514782.1:p.Asn28=
NM_000193.4:c.345C>T MANE Select	NP_000184.1:p.Asn115=
NM_001310462.2:c.84C>T	NP_001297391.1:p.Asn28=
NR_132318.2:n.345C>T
NR_132319.2:n.345C>T