Canonical Allele Identifier: CA458892369

Gene: SHH

Linked Data

• gnomAD v4: 7-155803143-C-T
• MyVariant Identifiers: chr7:g.155595837C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803143C>T , CM000669.2:g.155803143C>T	GRCh38
NC_000007.13:g.155595837C>T , CM000669.1:g.155595837C>T	GRCh37
NC_000007.12:g.155288598C>T	NCBI36
NG_007504.2:g.14131G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1146G>A MANE Select	ENSP00000297261.2:p.Leu382=
ENST00000297261.6:c.1146G>A	ENSP00000297261.2:p.Leu382=
ENST00000430104.5:c.302-2898G>A	ENSP00000396621.1:n.302-2898G>A
ENST00000435425.1:c.302-2546G>A	ENSP00000413871.1:n.302-2546G>A
ENST00000441114.5:c.302-2476G>A	ENSP00000410546.1:n.302-2476G>A
NM_000193.2:c.1146G>A	NP_000184.1:p.Leu382=
NM_000193.3:c.1146G>A	NP_000184.1:p.Leu382=
NM_001310462.1:c.302-2898G>A	NP_001297391.1:n.302-2898G>A
NR_132318.1:n.472-2476G>A
NR_132319.1:n.472-2546G>A
XM_011516479.1:c.885G>A	XP_011514781.1:p.Leu295=
XM_011516480.1:c.885G>A	XP_011514782.1:p.Leu295=
XM_011516481.1:c.885G>A	XP_011514783.1:p.Leu295=
XM_011516482.1:c.807G>A	XP_011514784.1:p.Leu269=
XM_011516479.2:c.885G>A	XP_011514781.1:p.Leu295=
XM_011516480.2:c.885G>A	XP_011514782.1:p.Leu295=
NM_000193.4:c.1146G>A MANE Select	NP_000184.1:p.Leu382=
NM_001310462.2:c.302-2898G>A	NP_001297391.1:n.302-2898G>A
NR_132318.2:n.563-2476G>A
NR_132319.2:n.563-2546G>A