Canonical Allele Identifier: CA4587068
Gene: SHH HGNC NCBI

Linked Data

ClinVar Variation Id: 378580
ClinVar RCV Id: RCV001810896 RCV002061510 RCV002480287
dbSNP Id: rs116412905
ExAC: 7:155604500 C / T
gnomAD v2: 7-155604500-C-T
gnomAD v3: 7-155811806-C-T
gnomAD v4: 7-155811806-C-T
MyVariant Identifiers: chr7:g.155604500C>T (hg19) chr7:g.155811806C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155811806C>T , CM000669.2:g.155811806C>T GRCh38
NC_000007.13:g.155604500C>T , CM000669.1:g.155604500C>T GRCh37
NC_000007.12:g.155297261C>T NCBI36
NG_007504.2:g.5468G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297261.7:c.300+17G>A MANE Select ENSP00000297261.2:n.300+17G>A
ENST00000297261.6:c.300+17G>A ENSP00000297261.2:n.300+17G>A
NM_000193.2:c.300+17G>A NP_000184.1:n.300+17G>A
NM_000193.3:c.300+17G>A NP_000184.1:n.300+17G>A
XM_011516479.2:c.-2904G>A XP_011514781.1:n.-2904G>A
XM_011516480.2:c.-3202G>A XP_011514782.1:n.-3202G>A
NM_000193.4:c.300+17G>A MANE Select NP_000184.1:n.300+17G>A
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