Canonical Allele Identifier: CA10605501

Gene: SHH

Linked Data

• ClinVar Variation Id: 286553
• ClinVar RCV Id: RCV000352030
• dbSNP Id: rs886043421
• gnomAD v2: 7-155595994-G-A
• gnomAD v3: 7-155803300-G-A
• gnomAD v4: 7-155803300-G-A
• MyVariant Identifiers: chr7:g.155595994G>A (hg19) ; chr7:g.155803300G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803300G>A , CM000669.2:g.155803300G>A	GRCh38
NC_000007.13:g.155595994G>A , CM000669.1:g.155595994G>A	GRCh37
NC_000007.12:g.155288755G>A	NCBI36
NG_007504.2:g.13974C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.989C>T MANE Select	ENSP00000297261.2:p.Ala330Val
ENST00000297261.6:c.989C>T	ENSP00000297261.2:p.Ala330Val
ENST00000430104.5:c.301+2996C>T	ENSP00000396621.1:n.301+2996C>T
ENST00000435425.1:c.302-2703C>T	ENSP00000413871.1:n.302-2703C>T
ENST00000441114.5:c.302-2633C>T	ENSP00000410546.1:n.302-2633C>T
NM_000193.2:c.989C>T	NP_000184.1:p.Ala330Val
NM_000193.3:c.989C>T	NP_000184.1:p.Ala330Val
NM_001310462.1:c.301+2996C>T	NP_001297391.1:n.301+2996C>T
NR_132318.1:n.472-2633C>T
NR_132319.1:n.472-2703C>T
XM_011516479.1:c.728C>T	XP_011514781.1:p.Ala243Val
XM_011516480.1:c.728C>T	XP_011514782.1:p.Ala243Val
XM_011516481.1:c.728C>T	XP_011514783.1:p.Ala243Val
XM_011516482.1:c.650C>T	XP_011514784.1:p.Ala217Val
XM_011516479.2:c.728C>T	XP_011514781.1:p.Ala243Val
XM_011516480.2:c.728C>T	XP_011514782.1:p.Ala243Val
NM_000193.4:c.989C>T MANE Select	NP_000184.1:p.Ala330Val
NM_001310462.2:c.301+2996C>T	NP_001297391.1:n.301+2996C>T
NR_132318.2:n.563-2633C>T
NR_132319.2:n.563-2703C>T