Canonical Allele Identifier: CA169426542
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs764326691
gnomAD v3: 7-155812235-G-C
gnomAD v4: 7-155812235-G-C
MyVariant Identifiers: chr7:g.155604929G>C (hg19) chr7:g.155812235G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812235G>C , CM000669.2:g.155812235G>C GRCh38
NC_000007.13:g.155604929G>C , CM000669.1:g.155604929G>C GRCh37
NC_000007.12:g.155297690G>C NCBI36
NG_007504.2:g.5039C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-113C>G MANE Select ENSP00000297261.2:n.-113C>G
ENST00000297261.6:c.-113C>G ENSP00000297261.2:n.-113C>G
NM_000193.2:c.-113C>G NP_000184.1:n.-113C>G
NM_000193.3:c.-113C>G NP_000184.1:n.-113C>G
NM_000193.4:c.-113C>G MANE Select NP_000184.1:n.-113C>G
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