Canonical Allele Identifier: CA370144957

Gene: SHH

Linked Data

• gnomAD v4: 7-155803153-G-A
• MyVariant Identifiers: chr7:g.155595847G>A (hg19) ; chr7:g.155803153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803153G>A , CM000669.2:g.155803153G>A	GRCh38
NC_000007.13:g.155595847G>A , CM000669.1:g.155595847G>A	GRCh37
NC_000007.12:g.155288608G>A	NCBI36
NG_007504.2:g.14121C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1136C>T MANE Select	ENSP00000297261.2:p.Pro379Leu
ENST00000297261.6:c.1136C>T	ENSP00000297261.2:p.Pro379Leu
ENST00000430104.5:c.302-2908C>T	ENSP00000396621.1:n.302-2908C>T
ENST00000435425.1:c.302-2556C>T	ENSP00000413871.1:n.302-2556C>T
ENST00000441114.5:c.302-2486C>T	ENSP00000410546.1:n.302-2486C>T
NM_000193.2:c.1136C>T	NP_000184.1:p.Pro379Leu
NM_000193.3:c.1136C>T	NP_000184.1:p.Pro379Leu
NM_001310462.1:c.302-2908C>T	NP_001297391.1:n.302-2908C>T
NR_132318.1:n.472-2486C>T
NR_132319.1:n.472-2556C>T
XM_011516479.1:c.875C>T	XP_011514781.1:p.Pro292Leu
XM_011516480.1:c.875C>T	XP_011514782.1:p.Pro292Leu
XM_011516481.1:c.875C>T	XP_011514783.1:p.Pro292Leu
XM_011516482.1:c.797C>T	XP_011514784.1:p.Pro266Leu
XM_011516479.2:c.875C>T	XP_011514781.1:p.Pro292Leu
XM_011516480.2:c.875C>T	XP_011514782.1:p.Pro292Leu
NM_000193.4:c.1136C>T MANE Select	NP_000184.1:p.Pro379Leu
NM_001310462.2:c.302-2908C>T	NP_001297391.1:n.302-2908C>T
NR_132318.2:n.563-2486C>T
NR_132319.2:n.563-2556C>T