Canonical Allele Identifier: CA370143726

Gene: SHH

Linked Data

• gnomAD v4: 7-155802910-T-C
• MyVariant Identifiers: chr7:g.155595604T>C (hg19) ; chr7:g.155802910T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155802910T>C , CM000669.2:g.155802910T>C	GRCh38
NC_000007.13:g.155595604T>C , CM000669.1:g.155595604T>C	GRCh37
NC_000007.12:g.155288365T>C	NCBI36
NG_007504.2:g.14364A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1379A>G MANE Select	ENSP00000297261.2:p.Lys460Arg
ENST00000297261.6:c.1379A>G	ENSP00000297261.2:p.Lys460Arg
ENST00000430104.5:c.302-2665A>G	ENSP00000396621.1:n.302-2665A>G
ENST00000435425.1:c.302-2313A>G	ENSP00000413871.1:n.302-2313A>G
ENST00000441114.5:c.302-2243A>G	ENSP00000410546.1:n.302-2243A>G
NM_000193.2:c.1379A>G	NP_000184.1:p.Lys460Arg
NM_000193.3:c.1379A>G	NP_000184.1:p.Lys460Arg
NM_001310462.1:c.302-2665A>G	NP_001297391.1:n.302-2665A>G
NR_132318.1:n.472-2243A>G
NR_132319.1:n.472-2313A>G
XM_011516479.1:c.1118A>G	XP_011514781.1:p.Lys373Arg
XM_011516480.1:c.1118A>G	XP_011514782.1:p.Lys373Arg
XM_011516481.1:c.1118A>G	XP_011514783.1:p.Lys373Arg
XM_011516482.1:c.1040A>G	XP_011514784.1:p.Lys347Arg
XM_011516479.2:c.1118A>G	XP_011514781.1:p.Lys373Arg
XM_011516480.2:c.1118A>G	XP_011514782.1:p.Lys373Arg
NM_000193.4:c.1379A>G MANE Select	NP_000184.1:p.Lys460Arg
NM_001310462.2:c.302-2665A>G	NP_001297391.1:n.302-2665A>G
NR_132318.2:n.563-2243A>G
NR_132319.2:n.563-2313A>G