Canonical Allele Identifier: CA15849671
Gene: ADAMTS7 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.78807196G>A
GRCh37 chr15:g.79099538G>A
gnomAD v2:
15:79099538 G / A
gnomAD v3:
15:78807196 G / A
gnomAD v4:
chr15-78807196-G-A
Joint Max Group AF 0.77675454 (MID)
Genomes Max Group AF 0.73214875 (NFE)
ClinVar RCV:
RCV001003454
ClinVar Variation:
812636
dbSNP:
922693
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78807196G>A , CM000677.2:g.78807196G>A GRCh38
NC_000015.9:g.79099538G>A , CM000677.1:g.79099538G>A GRCh37
NC_000015.8:g.76886593G>A NCBI36
NG_011492.1:g.9236C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388820.5:c.100+3925C>T MANE Select ENSP00000373472.4:n.100+3925C>T
ENST00000388820.4:c.100+3925C>T ENSP00000373472.4:n.100+3925C>T
ENST00000566303.5:n.163+3925C>T
ENST00000568712.1:n.112+3925C>T
NM_014272.3:c.100+3925C>T NP_055087.2:n.100+3925C>T
XM_005254137.2:c.100+3925C>T XP_005254194.1:n.100+3925C>T
NM_014272.4:c.100+3925C>T NP_055087.2:n.100+3925C>T
XM_005254137.4:c.100+3925C>T XP_005254194.1:n.100+3925C>T
NM_014272.5:c.100+3925C>T MANE Select NP_055087.2:n.100+3925C>T
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