Canonical Allele Identifier: CA1754767835

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803149G= , CM000669.2:g.155803149G=	GRCh38
NC_000007.13:g.155595843G= , CM000669.1:g.155595843G=	GRCh37
NC_000007.12:g.155288604G=	NCBI36
NG_007504.2:g.14125C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1140C= MANE Select	ENSP00000297261.2:p.Phe380=
ENST00000297261.6:c.1140C=	ENSP00000297261.2:p.Phe380=
ENST00000430104.5:c.302-2904C=	ENSP00000396621.1:n.302-2904C=
ENST00000435425.1:c.302-2552C=	ENSP00000413871.1:n.302-2552C=
ENST00000441114.5:c.302-2482C=	ENSP00000410546.1:n.302-2482C=
NM_000193.2:c.1140C=	NP_000184.1:p.Phe380=
NM_000193.3:c.1140C=	NP_000184.1:p.Phe380=
NM_001310462.1:c.302-2904C=	NP_001297391.1:n.302-2904C=
NR_132318.1:n.472-2482C=
NR_132319.1:n.472-2552C=
XM_011516479.1:c.879C=	XP_011514781.1:p.Phe293=
XM_011516480.1:c.879C=	XP_011514782.1:p.Phe293=
XM_011516481.1:c.879C=	XP_011514783.1:p.Phe293=
XM_011516482.1:c.801C=	XP_011514784.1:p.Phe267=
XM_011516479.2:c.879C=	XP_011514781.1:p.Phe293=
XM_011516480.2:c.879C=	XP_011514782.1:p.Phe293=
NM_000193.4:c.1140C= MANE Select	NP_000184.1:p.Phe380=
NM_001310462.2:c.302-2904C=	NP_001297391.1:n.302-2904C=
NR_132318.2:n.563-2482C=
NR_132319.2:n.563-2552C=