Canonical Allele Identifier: CA370151422

Gene: SHH

Linked Data

• MyVariant Identifiers: chr7:g.155604597T>G (hg19) ; chr7:g.155811903T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.155811903T>G , CM000669.2:g.155811903T>G	GRCh38
NC_000007.13:g.155604597T>G , CM000669.1:g.155604597T>G	GRCh37
NC_000007.12:g.155297358T>G	NCBI36
NG_007504.2:g.5371A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297261.7:c.220A>C MANE Select	ENSP00000297261.2:p.Lys74Gln
ENST00000297261.6:c.220A>C	ENSP00000297261.2:p.Lys74Gln
NM_000193.2:c.220A>C	NP_000184.1:p.Lys74Gln
NM_000193.3:c.220A>C	NP_000184.1:p.Lys74Gln
NM_000193.4:c.220A>C MANE Select	NP_000184.1:p.Lys74Gln