Canonical Allele Identifier: CA16042575
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 372894
ClinVar RCV Id: RCV000414014 RCV001861421
dbSNP Id: rs1057518056
gnomAD v4: 7-155803261-C-T
MyVariant Identifiers: chr7:g.155595955C>T (hg19) chr7:g.155803261C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155803261C>T , CM000669.2:g.155803261C>T GRCh38
NC_000007.13:g.155595955C>T , CM000669.1:g.155595955C>T GRCh37
NC_000007.12:g.155288716C>T NCBI36
NG_007504.2:g.14013G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.1028G>A MANE Select ENSP00000297261.2:p.Gly343Asp
ENST00000297261.6:c.1028G>A ENSP00000297261.2:p.Gly343Asp
ENST00000430104.5:c.302-3016G>A ENSP00000396621.1:n.302-3016G>A
ENST00000435425.1:c.302-2664G>A ENSP00000413871.1:n.302-2664G>A
ENST00000441114.5:c.302-2594G>A ENSP00000410546.1:n.302-2594G>A
NM_000193.2:c.1028G>A NP_000184.1:p.Gly343Asp
NM_000193.3:c.1028G>A NP_000184.1:p.Gly343Asp
NM_001310462.1:c.302-3016G>A NP_001297391.1:n.302-3016G>A
NR_132318.1:n.472-2594G>A
NR_132319.1:n.472-2664G>A
XM_011516479.1:c.767G>A XP_011514781.1:p.Gly256Asp
XM_011516480.1:c.767G>A XP_011514782.1:p.Gly256Asp
XM_011516481.1:c.767G>A XP_011514783.1:p.Gly256Asp
XM_011516482.1:c.689G>A XP_011514784.1:p.Gly230Asp
XM_011516479.2:c.767G>A XP_011514781.1:p.Gly256Asp
XM_011516480.2:c.767G>A XP_011514782.1:p.Gly256Asp
NM_000193.4:c.1028G>A MANE Select NP_000184.1:p.Gly343Asp
NM_001310462.2:c.302-3016G>A NP_001297391.1:n.302-3016G>A
NR_132318.2:n.563-2594G>A
NR_132319.2:n.563-2664G>A
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