Canonical Allele Identifier: CA11819408
Gene:
MyVariant.info:
GRCh38 chr4:g.174540379T>C
GRCh37 chr4:g.175461530T>C
gnomAD v2:
4:175461530 T / C
gnomAD v3:
4:174540379 T / C
gnomAD v4:
chr4-174540379-T-C
Joint Max Group AF 0.43469591 (AFR)
Genomes Max Group AF 0.43469591 (AFR)
Exomes Max Group AF 0.28532794 (NFE)
dbSNP:
2555639
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174540379T>C , CM000666.2:g.174540379T>C GRCh38
NC_000004.11:g.175461530T>C , CM000666.1:g.175461530T>C GRCh37
NC_000004.10:g.175698105T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939489.1:n.311T>C
Search 100 bp 5'
Search 100 bp 3'