Canonical Allele Identifier: CA1754763874

Gene: SHH

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155800744G= , CM000669.2:g.155800744G=	GRCh38
NC_000007.13:g.155593438G= , CM000669.1:g.155593438G=	GRCh37
NC_000007.12:g.155286199G=	NCBI36
NG_007504.2:g.16530C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000193.4:c.*2156C= MANE Select	NP_000184.1:n.*2156C=
ENST00000297261.7:c.*2156C= MANE Select	ENSP00000297261.2:n.*2156C=
NM_001310462.1:c.302-499C=	NP_001297391.1:n.302-499C=
NM_001310462.2:c.302-499C=	NP_001297391.1:n.302-499C=
NR_132318.1:n.472-77C=
NR_132318.2:n.563-77C=
NR_132319.1:n.472-147C=
NR_132319.2:n.563-147C=
ENST00000297261.6:c.*2156C=	ENSP00000297261.2:n.*2156C=
ENST00000430104.5:c.302-499C=	ENSP00000396621.1:n.302-499C=
ENST00000435425.1:c.302-147C=	ENSP00000413871.1:n.302-147C=
ENST00000441114.5:c.302-77C=	ENSP00000410546.1:n.302-77C=
XR_928240.1:n.1127C=