Canonical Allele Identifier: CA380181668
Gene: ALX4 HGNC NCBI

Linked Data

dbSNP Id: rs1458389067
gnomAD v2: 11-44286658-C-T
gnomAD v4: 11-44265108-C-T
MyVariant Identifiers: chr11:g.44286658C>T (hg19) chr11:g.44265108C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.44265108C>T , CM000673.2:g.44265108C>T GRCh38
NC_000011.9:g.44286658C>T , CM000673.1:g.44286658C>T GRCh37
NC_000011.8:g.44243234C>T NCBI36
NG_015809.1:g.50059G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000652299.1:c.982G>A MANE Select ENSP00000498217.1:p.Val328Met
ENST00000329255.3:c.982G>A ENSP00000332744.3:p.Val328Met
NM_021926.3:c.982G>A NP_068745.2:p.Val328Met
XM_011520265.1:c.460G>A XP_011518567.1:p.Val154Met
XM_011520266.1:c.460G>A XP_011518568.1:p.Val154Met
NM_021926.4:c.982G>A MANE Select NP_068745.2:p.Val328Met
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