Canonical Allele Identifier: CA458892888

Gene: SHH

Linked Data

• gnomAD v4: 7-155803299-G-T
• MyVariant Identifiers: chr7:g.155595993G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803299G>T , CM000669.2:g.155803299G>T	GRCh38
NC_000007.13:g.155595993G>T , CM000669.1:g.155595993G>T	GRCh37
NC_000007.12:g.155288754G>T	NCBI36
NG_007504.2:g.13975C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.990C>A MANE Select	ENSP00000297261.2:p.Ala330=
ENST00000297261.6:c.990C>A	ENSP00000297261.2:p.Ala330=
ENST00000430104.5:c.301+2997C>A	ENSP00000396621.1:n.301+2997C>A
ENST00000435425.1:c.302-2702C>A	ENSP00000413871.1:n.302-2702C>A
ENST00000441114.5:c.302-2632C>A	ENSP00000410546.1:n.302-2632C>A
NM_000193.2:c.990C>A	NP_000184.1:p.Ala330=
NM_000193.3:c.990C>A	NP_000184.1:p.Ala330=
NM_001310462.1:c.301+2997C>A	NP_001297391.1:n.301+2997C>A
NR_132318.1:n.472-2632C>A
NR_132319.1:n.472-2702C>A
XM_011516479.1:c.729C>A	XP_011514781.1:p.Ala243=
XM_011516480.1:c.729C>A	XP_011514782.1:p.Ala243=
XM_011516481.1:c.729C>A	XP_011514783.1:p.Ala243=
XM_011516482.1:c.651C>A	XP_011514784.1:p.Ala217=
XM_011516479.2:c.729C>A	XP_011514781.1:p.Ala243=
XM_011516480.2:c.729C>A	XP_011514782.1:p.Ala243=
NM_000193.4:c.990C>A MANE Select	NP_000184.1:p.Ala330=
NM_001310462.2:c.301+2997C>A	NP_001297391.1:n.301+2997C>A
NR_132318.2:n.563-2632C>A
NR_132319.2:n.563-2702C>A