Canonical Allele Identifier: CA1109097333
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1803539249
gnomAD v3: 7-155812226-C-A
gnomAD v4: 7-155812226-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812226C>A , CM000669.2:g.155812226C>A GRCh38
NC_000007.13:g.155604920C>A , CM000669.1:g.155604920C>A GRCh37
NC_000007.12:g.155297681C>A NCBI36
NG_007504.2:g.5048G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-104G>T MANE Select ENSP00000297261.2:n.-104G>T
ENST00000297261.6:c.-104G>T ENSP00000297261.2:n.-104G>T
NM_000193.2:c.-104G>T NP_000184.1:n.-104G>T
NM_000193.3:c.-104G>T NP_000184.1:n.-104G>T
NM_000193.4:c.-104G>T MANE Select NP_000184.1:n.-104G>T
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