Canonical Allele Identifier: CA370145145

Gene: SHH

Linked Data

• gnomAD v4: 7-155803200-G-T
• MyVariant Identifiers: chr7:g.155595894G>T (hg19) ; chr7:g.155803200G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803200G>T , CM000669.2:g.155803200G>T	GRCh38
NC_000007.13:g.155595894G>T , CM000669.1:g.155595894G>T	GRCh37
NC_000007.12:g.155288655G>T	NCBI36
NG_007504.2:g.14074C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1089C>A MANE Select	ENSP00000297261.2:p.Cys363Ter
ENST00000297261.6:c.1089C>A	ENSP00000297261.2:p.Cys363Ter
ENST00000430104.5:c.302-2955C>A	ENSP00000396621.1:n.302-2955C>A
ENST00000435425.1:c.302-2603C>A	ENSP00000413871.1:n.302-2603C>A
ENST00000441114.5:c.302-2533C>A	ENSP00000410546.1:n.302-2533C>A
NM_000193.2:c.1089C>A	NP_000184.1:p.Cys363Ter
NM_000193.3:c.1089C>A	NP_000184.1:p.Cys363Ter
NM_001310462.1:c.302-2955C>A	NP_001297391.1:n.302-2955C>A
NR_132318.1:n.472-2533C>A
NR_132319.1:n.472-2603C>A
XM_011516479.1:c.828C>A	XP_011514781.1:p.Cys276Ter
XM_011516480.1:c.828C>A	XP_011514782.1:p.Cys276Ter
XM_011516481.1:c.828C>A	XP_011514783.1:p.Cys276Ter
XM_011516482.1:c.750C>A	XP_011514784.1:p.Cys250Ter
XM_011516479.2:c.828C>A	XP_011514781.1:p.Cys276Ter
XM_011516480.2:c.828C>A	XP_011514782.1:p.Cys276Ter
NM_000193.4:c.1089C>A MANE Select	NP_000184.1:p.Cys363Ter
NM_001310462.2:c.302-2955C>A	NP_001297391.1:n.302-2955C>A
NR_132318.2:n.563-2533C>A
NR_132319.2:n.563-2603C>A