Canonical Allele Identifier: CA370143765

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155595612C>G (hg19) ; chr7:g.155802918C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155802918C>G , CM000669.2:g.155802918C>G	GRCh38
NC_000007.13:g.155595612C>G , CM000669.1:g.155595612C>G	GRCh37
NC_000007.12:g.155288373C>G	NCBI36
NG_007504.2:g.14356G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297261.7:c.1371G>C MANE Select	ENSP00000297261.2:p.Met457Ile
ENST00000297261.6:c.1371G>C	ENSP00000297261.2:p.Met457Ile
ENST00000430104.5:c.302-2673G>C	ENSP00000396621.1:n.302-2673G>C
ENST00000435425.1:c.302-2321G>C	ENSP00000413871.1:n.302-2321G>C
ENST00000441114.5:c.302-2251G>C	ENSP00000410546.1:n.302-2251G>C
NM_000193.2:c.1371G>C	NP_000184.1:p.Met457Ile
NM_000193.3:c.1371G>C	NP_000184.1:p.Met457Ile
NM_001310462.1:c.302-2673G>C	NP_001297391.1:n.302-2673G>C
NR_132318.1:n.472-2251G>C
NR_132319.1:n.472-2321G>C
XM_011516479.1:c.1110G>C	XP_011514781.1:p.Met370Ile
XM_011516480.1:c.1110G>C	XP_011514782.1:p.Met370Ile
XM_011516481.1:c.1110G>C	XP_011514783.1:p.Met370Ile
XM_011516482.1:c.1032G>C	XP_011514784.1:p.Met344Ile
XM_011516479.2:c.1110G>C	XP_011514781.1:p.Met370Ile
XM_011516480.2:c.1110G>C	XP_011514782.1:p.Met370Ile
NM_000193.4:c.1371G>C MANE Select	NP_000184.1:p.Met457Ile
NM_001310462.2:c.302-2673G>C	NP_001297391.1:n.302-2673G>C
NR_132318.2:n.563-2251G>C
NR_132319.2:n.563-2321G>C