Canonical Allele Identifier: CA169426510
Gene: SHH HGNC NCBI

Linked Data

dbSNP Id: rs1010231069
gnomAD v4: 7-155812163-G-A
MyVariant Identifiers: chr7:g.155604857G>A (hg19) chr7:g.155812163G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812163G>A , CM000669.2:g.155812163G>A GRCh38
NC_000007.13:g.155604857G>A , CM000669.1:g.155604857G>A GRCh37
NC_000007.12:g.155297618G>A NCBI36
NG_007504.2:g.5111C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-41C>T MANE Select ENSP00000297261.2:n.-41C>T
ENST00000297261.6:c.-41C>T ENSP00000297261.2:n.-41C>T
NM_000193.2:c.-41C>T NP_000184.1:n.-41C>T
NM_000193.3:c.-41C>T NP_000184.1:n.-41C>T
NM_000193.4:c.-41C>T MANE Select NP_000184.1:n.-41C>T
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