Canonical Allele Identifier: CA370145167

Gene: SHH

Linked Data

• gnomAD v4: 7-155803205-A-G
• MyVariant Identifiers: chr7:g.155595899A>G (hg19) ; chr7:g.155803205A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155803205A>G , CM000669.2:g.155803205A>G	GRCh38
NC_000007.13:g.155595899A>G , CM000669.1:g.155595899A>G	GRCh37
NC_000007.12:g.155288660A>G	NCBI36
NG_007504.2:g.14069T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1084T>C MANE Select	ENSP00000297261.2:p.Ser362Pro
ENST00000297261.6:c.1084T>C	ENSP00000297261.2:p.Ser362Pro
ENST00000430104.5:c.302-2960T>C	ENSP00000396621.1:n.302-2960T>C
ENST00000435425.1:c.302-2608T>C	ENSP00000413871.1:n.302-2608T>C
ENST00000441114.5:c.302-2538T>C	ENSP00000410546.1:n.302-2538T>C
NM_000193.2:c.1084T>C	NP_000184.1:p.Ser362Pro
NM_000193.3:c.1084T>C	NP_000184.1:p.Ser362Pro
NM_001310462.1:c.302-2960T>C	NP_001297391.1:n.302-2960T>C
NR_132318.1:n.472-2538T>C
NR_132319.1:n.472-2608T>C
XM_011516479.1:c.823T>C	XP_011514781.1:p.Ser275Pro
XM_011516480.1:c.823T>C	XP_011514782.1:p.Ser275Pro
XM_011516481.1:c.823T>C	XP_011514783.1:p.Ser275Pro
XM_011516482.1:c.745T>C	XP_011514784.1:p.Ser249Pro
XM_011516479.2:c.823T>C	XP_011514781.1:p.Ser275Pro
XM_011516480.2:c.823T>C	XP_011514782.1:p.Ser275Pro
NM_000193.4:c.1084T>C MANE Select	NP_000184.1:p.Ser362Pro
NM_001310462.2:c.302-2960T>C	NP_001297391.1:n.302-2960T>C
NR_132318.2:n.563-2538T>C
NR_132319.2:n.563-2608T>C