Canonical Allele Identifier: CA169422829

Gene: SHH

Linked Data

• dbSNP Id: rs11576052
• gnomAD v2: 7-155597850-C-G
• gnomAD v3: 7-155805156-C-G
• gnomAD v4: 7-155805156-C-G
• MyVariant Identifiers: chr7:g.155597850C>G (hg19) ; chr7:g.155805156C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155805156C>G , CM000669.2:g.155805156C>G	GRCh38
NC_000007.13:g.155597850C>G , CM000669.1:g.155597850C>G	GRCh37
NC_000007.12:g.155290611C>G	NCBI36
NG_007504.2:g.12118G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.562+1140G>C MANE Select	ENSP00000297261.2:n.562+1140G>C
ENST00000297261.6:c.562+1140G>C	ENSP00000297261.2:n.562+1140G>C
ENST00000430104.5:c.301+1140G>C	ENSP00000396621.1:n.301+1140G>C
ENST00000435425.1:c.301+1140G>C	ENSP00000413871.1:n.301+1140G>C
ENST00000441114.5:c.301+1140G>C	ENSP00000410546.1:n.301+1140G>C
NM_000193.2:c.562+1140G>C	NP_000184.1:n.562+1140G>C
NM_000193.3:c.562+1140G>C	NP_000184.1:n.562+1140G>C
NM_001310462.1:c.301+1140G>C	NP_001297391.1:n.301+1140G>C
NR_132318.1:n.471+1140G>C
NR_132319.1:n.471+1140G>C
XM_011516479.1:c.301+1140G>C	XP_011514781.1:n.301+1140G>C
XM_011516480.1:c.301+1140G>C	XP_011514782.1:n.301+1140G>C
XM_011516481.1:c.301+1140G>C	XP_011514783.1:n.301+1140G>C
XM_011516482.1:c.223+1140G>C	XP_011514784.1:n.223+1140G>C
XM_011516479.2:c.301+1140G>C	XP_011514781.1:n.301+1140G>C
XM_011516480.2:c.301+1140G>C	XP_011514782.1:n.301+1140G>C
NM_000193.4:c.562+1140G>C MANE Select	NP_000184.1:n.562+1140G>C
NM_001310462.2:c.301+1140G>C	NP_001297391.1:n.301+1140G>C
NR_132318.2:n.562+1140G>C
NR_132319.2:n.562+1140G>C