Canonical Allele Identifier: CA5955775
Gene: ALX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 304711
ClinVar RCV Id: RCV001549018 RCV001594939
dbSNP Id: rs12421995
ExAC: 11:44331309 G / A
gnomAD v2: 11-44331309-G-A
gnomAD v3: 11-44309759-G-A
gnomAD v4: 11-44309759-G-A
MyVariant Identifiers: chr11:g.44331309G>A (hg19) chr11:g.44309759G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44309759G>A , CM000673.2:g.44309759G>A GRCh38
NC_000011.9:g.44331309G>A , CM000673.1:g.44331309G>A GRCh37
NC_000011.8:g.44287885G>A NCBI36
NG_015809.1:g.5408C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.304C>T MANE Select ENSP00000498217.1:p.Pro102Ser
ENST00000329255.3:c.304C>T ENSP00000332744.3:p.Pro102Ser
NM_021926.3:c.304C>T NP_068745.2:p.Pro102Ser
XM_011520264.1:c.304C>T XP_011518566.1:p.Pro102Ser
XM_011520265.1:c.-147-72C>T XP_011518567.1:n.-147-72C>T
NM_021926.4:c.304C>T MANE Select NP_068745.2:p.Pro102Ser
Search 100 bp 5'
Search 100 bp 3'