Canonical Allele Identifier: CA5955691
Gene: ALX4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.44275505G>A
GRCh37 chr11:g.44297055G>A
Revel Score:
ENST00000329255 0.283
gnomAD v2:
11:44297055 G / A
gnomAD v3:
11:44275505 G / A
gnomAD v4:
chr11-44275505-G-A
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV001105137
ClinVar Variation:
878505
dbSNP:
104894197
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44275505G>A , CM000673.2:g.44275505G>A GRCh38
NC_000011.9:g.44297055G>A , CM000673.1:g.44297055G>A GRCh37
NC_000011.8:g.44253631G>A NCBI36
NG_015809.1:g.39662C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652299.1:c.620C>T MANE Select ENSP00000498217.1:p.Ser207Leu
ENST00000329255.3:c.620C>T ENSP00000332744.3:p.Ser207Leu
NM_021926.3:c.620C>T NP_068745.2:p.Ser207Leu
XM_011520264.1:c.620C>T XP_011518566.1:p.Ser207Leu
XM_011520265.1:c.98C>T XP_011518567.1:p.Ser33Leu
XM_011520266.1:c.98C>T XP_011518568.1:p.Ser33Leu
NM_021926.4:c.620C>T MANE Select NP_068745.2:p.Ser207Leu
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