Canonical Allele Identifier: CA169423610

Gene: SHH

Linked Data

• dbSNP Id: rs995501124
• gnomAD v3: 7-155806522-C-T
• gnomAD v4: 7-155806522-C-T
• MyVariant Identifiers: chr7:g.155599216C>T (hg19) ; chr7:g.155806522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806522C>T , CM000669.2:g.155806522C>T	GRCh38
NC_000007.13:g.155599216C>T , CM000669.1:g.155599216C>T	GRCh37
NC_000007.12:g.155291977C>T	NCBI36
NG_007504.2:g.10752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.336G>A MANE Select	ENSP00000297261.2:p.Ser112=
ENST00000297261.6:c.336G>A	ENSP00000297261.2:p.Ser112=
ENST00000430104.5:c.75G>A	ENSP00000396621.1:p.Ser25=
ENST00000435425.1:c.75G>A	ENSP00000413871.1:p.Ser25=
ENST00000441114.5:c.75G>A	ENSP00000410546.1:p.Ser25=
NM_000193.2:c.336G>A	NP_000184.1:p.Ser112=
NM_000193.3:c.336G>A	NP_000184.1:p.Ser112=
NM_001310462.1:c.75G>A	NP_001297391.1:p.Ser25=
NR_132318.1:n.245G>A
NR_132319.1:n.245G>A
XM_011516479.1:c.75G>A	XP_011514781.1:p.Ser25=
XM_011516480.1:c.75G>A	XP_011514782.1:p.Ser25=
XM_011516481.1:c.75G>A	XP_011514783.1:p.Ser25=
XM_011516482.1:c.-4G>A	XP_011514784.1:n.-4G>A
XM_011516479.2:c.75G>A	XP_011514781.1:p.Ser25=
XM_011516480.2:c.75G>A	XP_011514782.1:p.Ser25=
NM_000193.4:c.336G>A MANE Select	NP_000184.1:p.Ser112=
NM_001310462.2:c.75G>A	NP_001297391.1:p.Ser25=
NR_132318.2:n.336G>A
NR_132319.2:n.336G>A