Canonical Allele Identifier: CA4587119
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs757530222
ExAC: 7:155604852 C / A
gnomAD v2: 7-155604852-C-A
gnomAD v4: 7-155812158-C-A
MyVariant Identifiers: chr7:g.155604852C>A (hg19) chr7:g.155812158C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812158C>A , CM000669.2:g.155812158C>A GRCh38
NC_000007.13:g.155604852C>A , CM000669.1:g.155604852C>A GRCh37
NC_000007.12:g.155297613C>A NCBI36
NG_007504.2:g.5116G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-36G>T MANE Select ENSP00000297261.2:n.-36G>T
ENST00000297261.6:c.-36G>T ENSP00000297261.2:n.-36G>T
NM_000193.2:c.-36G>T NP_000184.1:n.-36G>T
NM_000193.3:c.-36G>T NP_000184.1:n.-36G>T
NM_000193.4:c.-36G>T MANE Select NP_000184.1:n.-36G>T
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