Canonical Allele Identifier: CA370149365

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155599210C>G (hg19) ; chr7:g.155806516C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155806516C>G , CM000669.2:g.155806516C>G	GRCh38
NC_000007.13:g.155599210C>G , CM000669.1:g.155599210C>G	GRCh37
NC_000007.12:g.155291971C>G	NCBI36
NG_007504.2:g.10758G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.342G>C MANE Select	ENSP00000297261.2:p.Met114Ile
ENST00000297261.6:c.342G>C	ENSP00000297261.2:p.Met114Ile
ENST00000430104.5:c.81G>C	ENSP00000396621.1:p.Met27Ile
ENST00000435425.1:c.81G>C	ENSP00000413871.1:p.Met27Ile
ENST00000441114.5:c.81G>C	ENSP00000410546.1:p.Met27Ile
NM_000193.2:c.342G>C	NP_000184.1:p.Met114Ile
NM_000193.3:c.342G>C	NP_000184.1:p.Met114Ile
NM_001310462.1:c.81G>C	NP_001297391.1:p.Met27Ile
NR_132318.1:n.251G>C
NR_132319.1:n.251G>C
XM_011516479.1:c.81G>C	XP_011514781.1:p.Met27Ile
XM_011516480.1:c.81G>C	XP_011514782.1:p.Met27Ile
XM_011516481.1:c.81G>C	XP_011514783.1:p.Met27Ile
XM_011516482.1:c.3G>C	XP_011514784.1:p.Met1Ile
XM_011516479.2:c.81G>C	XP_011514781.1:p.Met27Ile
XM_011516480.2:c.81G>C	XP_011514782.1:p.Met27Ile
NM_000193.4:c.342G>C MANE Select	NP_000184.1:p.Met114Ile
NM_001310462.2:c.81G>C	NP_001297391.1:p.Met27Ile
NR_132318.2:n.342G>C
NR_132319.2:n.342G>C