Canonical Allele Identifier: CA370143720

Gene: SHH

Linked Data

• gnomAD v4: 7-155802909-C-A
• MyVariant Identifiers: chr7:g.155595603C>A (hg19) ; chr7:g.155802909C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155802909C>A , CM000669.2:g.155802909C>A	GRCh38
NC_000007.13:g.155595603C>A , CM000669.1:g.155595603C>A	GRCh37
NC_000007.12:g.155288364C>A	NCBI36
NG_007504.2:g.14365G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1380G>T MANE Select	ENSP00000297261.2:p.Lys460Asn
ENST00000297261.6:c.1380G>T	ENSP00000297261.2:p.Lys460Asn
ENST00000430104.5:c.302-2664G>T	ENSP00000396621.1:n.302-2664G>T
ENST00000435425.1:c.302-2312G>T	ENSP00000413871.1:n.302-2312G>T
ENST00000441114.5:c.302-2242G>T	ENSP00000410546.1:n.302-2242G>T
NM_000193.2:c.1380G>T	NP_000184.1:p.Lys460Asn
NM_000193.3:c.1380G>T	NP_000184.1:p.Lys460Asn
NM_001310462.1:c.302-2664G>T	NP_001297391.1:n.302-2664G>T
NR_132318.1:n.472-2242G>T
NR_132319.1:n.472-2312G>T
XM_011516479.1:c.1119G>T	XP_011514781.1:p.Lys373Asn
XM_011516480.1:c.1119G>T	XP_011514782.1:p.Lys373Asn
XM_011516481.1:c.1119G>T	XP_011514783.1:p.Lys373Asn
XM_011516482.1:c.1041G>T	XP_011514784.1:p.Lys347Asn
XM_011516479.2:c.1119G>T	XP_011514781.1:p.Lys373Asn
XM_011516480.2:c.1119G>T	XP_011514782.1:p.Lys373Asn
NM_000193.4:c.1380G>T MANE Select	NP_000184.1:p.Lys460Asn
NM_001310462.2:c.302-2664G>T	NP_001297391.1:n.302-2664G>T
NR_132318.2:n.563-2242G>T
NR_132319.2:n.563-2312G>T