Canonical Allele Identifier: CA5955538

Gene: ALX4

Linked Data

• ClinVar Variation Id: 304701
• ClinVar RCV Id: RCV001548884 ; RCV001642945
• dbSNP Id: rs3802805
• ExAC: 11:44286566 G / A
• gnomAD v2: 11-44286566-G-A
• gnomAD v3: 11-44265016-G-A
• gnomAD v4: 11-44265016-G-A
• MyVariant Identifiers: chr11:g.44286566G>A (hg19) ; chr11:g.44265016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.44265016G>A , CM000673.2:g.44265016G>A	GRCh38
NC_000011.9:g.44286566G>A , CM000673.1:g.44286566G>A	GRCh37
NC_000011.8:g.44243142G>A	NCBI36
NG_015809.1:g.50151C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000652299.1:c.1074C>T MANE Select	ENSP00000498217.1:p.His358=
ENST00000329255.3:c.1074C>T	ENSP00000332744.3:p.His358=
NM_021926.3:c.1074C>T	NP_068745.2:p.His358=
XM_011520265.1:c.552C>T	XP_011518567.1:p.His184=
XM_011520266.1:c.552C>T	XP_011518568.1:p.His184=
NM_021926.4:c.1074C>T MANE Select	NP_068745.2:p.His358=