Canonical Allele Identifier: CA458892398

Gene: SHH

Linked Data

• gnomAD v4: 7-155803155-C-G
• MyVariant Identifiers: chr7:g.155595849C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803155C>G , CM000669.2:g.155803155C>G	GRCh38
NC_000007.13:g.155595849C>G , CM000669.1:g.155595849C>G	GRCh37
NC_000007.12:g.155288610C>G	NCBI36
NG_007504.2:g.14119G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1134G>C MANE Select	ENSP00000297261.2:p.Ala378=
ENST00000297261.6:c.1134G>C	ENSP00000297261.2:p.Ala378=
ENST00000430104.5:c.302-2910G>C	ENSP00000396621.1:n.302-2910G>C
ENST00000435425.1:c.302-2558G>C	ENSP00000413871.1:n.302-2558G>C
ENST00000441114.5:c.302-2488G>C	ENSP00000410546.1:n.302-2488G>C
NM_000193.2:c.1134G>C	NP_000184.1:p.Ala378=
NM_000193.3:c.1134G>C	NP_000184.1:p.Ala378=
NM_001310462.1:c.302-2910G>C	NP_001297391.1:n.302-2910G>C
NR_132318.1:n.472-2488G>C
NR_132319.1:n.472-2558G>C
XM_011516479.1:c.873G>C	XP_011514781.1:p.Ala291=
XM_011516480.1:c.873G>C	XP_011514782.1:p.Ala291=
XM_011516481.1:c.873G>C	XP_011514783.1:p.Ala291=
XM_011516482.1:c.795G>C	XP_011514784.1:p.Ala265=
XM_011516479.2:c.873G>C	XP_011514781.1:p.Ala291=
XM_011516480.2:c.873G>C	XP_011514782.1:p.Ala291=
NM_000193.4:c.1134G>C MANE Select	NP_000184.1:p.Ala378=
NM_001310462.2:c.302-2910G>C	NP_001297391.1:n.302-2910G>C
NR_132318.2:n.563-2488G>C
NR_132319.2:n.563-2558G>C