Canonical Allele Identifier: CA370149361

Gene: SHH

Linked Data

• dbSNP Id: rs1803366897
• gnomAD v3: 7-155806514-T-G
• gnomAD v4: 7-155806514-T-G
• MyVariant Identifiers: chr7:g.155599208T>G (hg19) ; chr7:g.155806514T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806514T>G , CM000669.2:g.155806514T>G	GRCh38
NC_000007.13:g.155599208T>G , CM000669.1:g.155599208T>G	GRCh37
NC_000007.12:g.155291969T>G	NCBI36
NG_007504.2:g.10760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.344A>C MANE Select	ENSP00000297261.2:p.Asn115Thr
ENST00000297261.6:c.344A>C	ENSP00000297261.2:p.Asn115Thr
ENST00000430104.5:c.83A>C	ENSP00000396621.1:p.Asn28Thr
ENST00000435425.1:c.83A>C	ENSP00000413871.1:p.Asn28Thr
ENST00000441114.5:c.83A>C	ENSP00000410546.1:p.Asn28Thr
NM_000193.2:c.344A>C	NP_000184.1:p.Asn115Thr
NM_000193.3:c.344A>C	NP_000184.1:p.Asn115Thr
NM_001310462.1:c.83A>C	NP_001297391.1:p.Asn28Thr
NR_132318.1:n.253A>C
NR_132319.1:n.253A>C
XM_011516479.1:c.83A>C	XP_011514781.1:p.Asn28Thr
XM_011516480.1:c.83A>C	XP_011514782.1:p.Asn28Thr
XM_011516481.1:c.83A>C	XP_011514783.1:p.Asn28Thr
XM_011516482.1:c.5A>C	XP_011514784.1:p.Asn2Thr
XM_011516479.2:c.83A>C	XP_011514781.1:p.Asn28Thr
XM_011516480.2:c.83A>C	XP_011514782.1:p.Asn28Thr
NM_000193.4:c.344A>C MANE Select	NP_000184.1:p.Asn115Thr
NM_001310462.2:c.83A>C	NP_001297391.1:p.Asn28Thr
NR_132318.2:n.344A>C
NR_132319.2:n.344A>C