Canonical Allele Identifier: CA370149376

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155599215C>A (hg19) ; chr7:g.155806521C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806521C>A , CM000669.2:g.155806521C>A	GRCh38
NC_000007.13:g.155599215C>A , CM000669.1:g.155599215C>A	GRCh37
NC_000007.12:g.155291976C>A	NCBI36
NG_007504.2:g.10753G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.337G>T MANE Select	ENSP00000297261.2:p.Val113Leu
ENST00000297261.6:c.337G>T	ENSP00000297261.2:p.Val113Leu
ENST00000430104.5:c.76G>T	ENSP00000396621.1:p.Val26Leu
ENST00000435425.1:c.76G>T	ENSP00000413871.1:p.Val26Leu
ENST00000441114.5:c.76G>T	ENSP00000410546.1:p.Val26Leu
NM_000193.2:c.337G>T	NP_000184.1:p.Val113Leu
NM_000193.3:c.337G>T	NP_000184.1:p.Val113Leu
NM_001310462.1:c.76G>T	NP_001297391.1:p.Val26Leu
NR_132318.1:n.246G>T
NR_132319.1:n.246G>T
XM_011516479.1:c.76G>T	XP_011514781.1:p.Val26Leu
XM_011516480.1:c.76G>T	XP_011514782.1:p.Val26Leu
XM_011516481.1:c.76G>T	XP_011514783.1:p.Val26Leu
XM_011516482.1:c.-3G>T	XP_011514784.1:n.-3G>T
XM_011516479.2:c.76G>T	XP_011514781.1:p.Val26Leu
XM_011516480.2:c.76G>T	XP_011514782.1:p.Val26Leu
NM_000193.4:c.337G>T MANE Select	NP_000184.1:p.Val113Leu
NM_001310462.2:c.76G>T	NP_001297391.1:p.Val26Leu
NR_132318.2:n.337G>T
NR_132319.2:n.337G>T