Canonical Allele Identifier: CA370144830

Gene: SHH

Linked Data

• ClinVar Variation Id: 430943
• ClinVar RCV Id: RCV000495992
• dbSNP Id: rs1131692264
• gnomAD v3: 7-155803118-C-T
• gnomAD v4: 7-155803118-C-T
• MyVariant Identifiers: chr7:g.155595812C>T (hg19) ; chr7:g.155803118C>T (hg38)
• PubMed: PMID:19603532

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803118C>T , CM000669.2:g.155803118C>T	GRCh38
NC_000007.13:g.155595812C>T , CM000669.1:g.155595812C>T	GRCh37
NC_000007.12:g.155288573C>T	NCBI36
NG_007504.2:g.14156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.1171G>A MANE Select	ENSP00000297261.2:p.Ala391Thr
ENST00000297261.6:c.1171G>A	ENSP00000297261.2:p.Ala391Thr
ENST00000430104.5:c.302-2873G>A	ENSP00000396621.1:n.302-2873G>A
ENST00000435425.1:c.302-2521G>A	ENSP00000413871.1:n.302-2521G>A
ENST00000441114.5:c.302-2451G>A	ENSP00000410546.1:n.302-2451G>A
NM_000193.2:c.1171G>A	NP_000184.1:p.Ala391Thr
NM_000193.3:c.1171G>A	NP_000184.1:p.Ala391Thr
NM_001310462.1:c.302-2873G>A	NP_001297391.1:n.302-2873G>A
NR_132318.1:n.472-2451G>A
NR_132319.1:n.472-2521G>A
XM_011516479.1:c.910G>A	XP_011514781.1:p.Ala304Thr
XM_011516480.1:c.910G>A	XP_011514782.1:p.Ala304Thr
XM_011516481.1:c.910G>A	XP_011514783.1:p.Ala304Thr
XM_011516482.1:c.832G>A	XP_011514784.1:p.Ala278Thr
XM_011516479.2:c.910G>A	XP_011514781.1:p.Ala304Thr
XM_011516480.2:c.910G>A	XP_011514782.1:p.Ala304Thr
NM_000193.4:c.1171G>A MANE Select	NP_000184.1:p.Ala391Thr
NM_001310462.2:c.302-2873G>A	NP_001297391.1:n.302-2873G>A
NR_132318.2:n.563-2451G>A
NR_132319.2:n.563-2521G>A