Canonical Allele Identifier: CA11360485
Gene: ACTL11P HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.49873722G>A
GRCh37 chr3:g.49911155G>A
gnomAD v2:
3:49911155 G / A
gnomAD v3:
3:49873722 G / A
gnomAD v4:
chr3-49873722-G-A
Joint Max Group AF 0.41288212 (NFE)
Genomes Max Group AF 0.41289511 (NFE)
Exomes Max Group AF 0.25920678 (NFE)
dbSNP:
55692411
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49873722G>A , CM000665.2:g.49873722G>A GRCh38
NC_000003.11:g.49911155G>A , CM000665.1:g.49911155G>A GRCh37
NC_000003.10:g.49886159G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000423971.2:n.3584C>T
ENST00000423971.1:n.4259C>T
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