Canonical Allele Identifier: CA224751214
Gene: WNT11 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.76206330C>G
GRCh37 chr11:g.75917374C>G
Revel Score:
ENST00000322563 (MANE Select) 0.105
ENST00000531317 0.105
ENST00000447195 0.105
gnomAD v2:
11:75917374 C / G
gnomAD v3:
11:76206330 C / G
gnomAD v4:
chr11-76206330-C-G
Joint Max Group AF 8.1e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV004231124
ClinVar Variation:
2397360
dbSNP:
1020429252
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.76206330C>G , CM000673.2:g.76206330C>G GRCh38
NC_000011.9:g.75917374C>G , CM000673.1:g.75917374C>G GRCh37
NC_000011.8:g.75595022C>G NCBI36
NG_046931.1:g.12679G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000322563.8:c.78G>C MANE Select ENSP00000325526.3:p.Lys26Asn
ENST00000322563.7:c.78G>C ENSP00000325526.3:p.Lys26Asn
ENST00000621122.1:c.78G>C ENSP00000483229.1:p.Lys26Asn
NM_004626.2:c.78G>C NP_004617.2:p.Lys26Asn
XM_005274231.1:c.78G>C XP_005274288.1:p.Lys26Asn
XM_011545237.1:c.78G>C XP_011543539.1:p.Lys26Asn
XM_011545238.1:c.78G>C XP_011543540.1:p.Lys26Asn
XM_011545239.1:c.78G>C XP_011543541.1:p.Lys26Asn
XM_011545240.1:c.78G>C XP_011543542.1:p.Lys26Asn
XR_950037.1:n.169G>C
XM_011545239.2:c.78G>C XP_011543541.1:p.Lys26Asn
XM_011545240.2:c.78G>C XP_011543542.1:p.Lys26Asn
XM_024448678.1:c.-266G>C XP_024304446.1:n.-266G>C
XR_002957190.1:n.251G>C
NM_004626.3:c.78G>C MANE Select NP_004617.2:p.Lys26Asn
Search 100 bp 5'
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