Canonical Allele Identifier: CA2896566
Gene:
MyVariant.info:
GRCh38 chr4:g.40044067C>T
GRCh37 chr4:g.40045687C>T
gnomAD v2:
4:40045687 C / T
gnomAD v3:
4:40044067 C / T
gnomAD v4:
chr4-40044067-C-T
Joint Max Group AF 0.14116693 (SAS)
Genomes Max Group AF 0.13947782 (SAS)
Exomes Max Group AF 0.14069571 (SAS)
dbSNP:
17585937
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40044067C>T , CM000666.2:g.40044067C>T GRCh38
NC_000004.11:g.40045687C>T , CM000666.1:g.40045687C>T GRCh37
NC_000004.10:g.39722082C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381811.2:n.463G>A
ENST00000507914.2:n.69G>A
NR_027277.2:n.463G>A
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