Canonical Allele Identifier: CA458750787

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155599213C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806519C>A , CM000669.2:g.155806519C>A	GRCh38
NC_000007.13:g.155599213C>A , CM000669.1:g.155599213C>A	GRCh37
NC_000007.12:g.155291974C>A	NCBI36
NG_007504.2:g.10755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.339G>T MANE Select	ENSP00000297261.2:p.Val113=
ENST00000297261.6:c.339G>T	ENSP00000297261.2:p.Val113=
ENST00000430104.5:c.78G>T	ENSP00000396621.1:p.Val26=
ENST00000435425.1:c.78G>T	ENSP00000413871.1:p.Val26=
ENST00000441114.5:c.78G>T	ENSP00000410546.1:p.Val26=
NM_000193.2:c.339G>T	NP_000184.1:p.Val113=
NM_000193.3:c.339G>T	NP_000184.1:p.Val113=
NM_001310462.1:c.78G>T	NP_001297391.1:p.Val26=
NR_132318.1:n.248G>T
NR_132319.1:n.248G>T
XM_011516479.1:c.78G>T	XP_011514781.1:p.Val26=
XM_011516480.1:c.78G>T	XP_011514782.1:p.Val26=
XM_011516481.1:c.78G>T	XP_011514783.1:p.Val26=
XM_011516482.1:c.-1G>T	XP_011514784.1:n.-1G>T
XM_011516479.2:c.78G>T	XP_011514781.1:p.Val26=
XM_011516480.2:c.78G>T	XP_011514782.1:p.Val26=
NM_000193.4:c.339G>T MANE Select	NP_000184.1:p.Val113=
NM_001310462.2:c.78G>T	NP_001297391.1:p.Val26=
NR_132318.2:n.339G>T
NR_132319.2:n.339G>T