Canonical Allele Identifier: CA4586949

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803533G>A , CM000669.2:g.155803533G>A	GRCh38
NC_000007.13:g.155596227G>A , CM000669.1:g.155596227G>A	GRCh37
NC_000007.12:g.155288988G>A	NCBI36
NG_007504.2:g.13741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.756C>T MANE Select	ENSP00000297261.2:p.Phe252=
ENST00000297261.6:c.756C>T	ENSP00000297261.2:p.Phe252=
ENST00000430104.5:c.301+2763C>T	ENSP00000396621.1:n.301+2763C>T
ENST00000435425.1:c.301+2763C>T	ENSP00000413871.1:n.301+2763C>T
ENST00000441114.5:c.301+2763C>T	ENSP00000410546.1:n.301+2763C>T
NM_000193.2:c.756C>T	NP_000184.1:p.Phe252=
NM_000193.3:c.756C>T	NP_000184.1:p.Phe252=
NM_001310462.1:c.301+2763C>T	NP_001297391.1:n.301+2763C>T
NR_132318.1:n.471+2763C>T
NR_132319.1:n.471+2763C>T
XM_011516479.1:c.495C>T	XP_011514781.1:p.Phe165=
XM_011516480.1:c.495C>T	XP_011514782.1:p.Phe165=
XM_011516481.1:c.495C>T	XP_011514783.1:p.Phe165=
XM_011516482.1:c.417C>T	XP_011514784.1:p.Phe139=
XM_011516479.2:c.495C>T	XP_011514781.1:p.Phe165=
XM_011516480.2:c.495C>T	XP_011514782.1:p.Phe165=
NM_000193.4:c.756C>T MANE Select	NP_000184.1:p.Phe252=
NM_001310462.2:c.301+2763C>T	NP_001297391.1:n.301+2763C>T
NR_132318.2:n.562+2763C>T
NR_132319.2:n.562+2763C>T