Canonical Allele Identifier: CA458892903

Gene: SHH

Linked Data

• gnomAD v4: 7-155803305-C-A
• MyVariant Identifiers: chr7:g.155595999C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803305C>A , CM000669.2:g.155803305C>A	GRCh38
NC_000007.13:g.155595999C>A , CM000669.1:g.155595999C>A	GRCh37
NC_000007.12:g.155288760C>A	NCBI36
NG_007504.2:g.13969G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.984G>T MANE Select	ENSP00000297261.2:p.Leu328=
ENST00000297261.6:c.984G>T	ENSP00000297261.2:p.Leu328=
ENST00000430104.5:c.301+2991G>T	ENSP00000396621.1:n.301+2991G>T
ENST00000435425.1:c.302-2708G>T	ENSP00000413871.1:n.302-2708G>T
ENST00000441114.5:c.302-2638G>T	ENSP00000410546.1:n.302-2638G>T
NM_000193.2:c.984G>T	NP_000184.1:p.Leu328=
NM_000193.3:c.984G>T	NP_000184.1:p.Leu328=
NM_001310462.1:c.301+2991G>T	NP_001297391.1:n.301+2991G>T
NR_132318.1:n.472-2638G>T
NR_132319.1:n.472-2708G>T
XM_011516479.1:c.723G>T	XP_011514781.1:p.Leu241=
XM_011516480.1:c.723G>T	XP_011514782.1:p.Leu241=
XM_011516481.1:c.723G>T	XP_011514783.1:p.Leu241=
XM_011516482.1:c.645G>T	XP_011514784.1:p.Leu215=
XM_011516479.2:c.723G>T	XP_011514781.1:p.Leu241=
XM_011516480.2:c.723G>T	XP_011514782.1:p.Leu241=
NM_000193.4:c.984G>T MANE Select	NP_000184.1:p.Leu328=
NM_001310462.2:c.301+2991G>T	NP_001297391.1:n.301+2991G>T
NR_132318.2:n.563-2638G>T
NR_132319.2:n.563-2708G>T