Canonical Allele Identifier: CA578816864
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1487924230
gnomAD v2: 7-155605008-G-A
gnomAD v3: 7-155812314-G-A
gnomAD v4: 7-155812314-G-A
MyVariant Identifiers: chr7:g.155605008G>A (hg19) chr7:g.155812314G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812314G>A , CM000669.2:g.155812314G>A GRCh38
NC_000007.13:g.155605008G>A , CM000669.1:g.155605008G>A GRCh37
NC_000007.12:g.155297769G>A NCBI36
NG_007504.2:g.4960C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-192C>T MANE Select ENSP00000297261.2:n.-192C>T
NM_000193.4:c.-192C>T MANE Select NP_000184.1:n.-192C>T
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