Canonical Allele Identifier: CA774010961
Gene:
MyVariant.info:
GRCh38 chr17:g.63918895A>T
GRCh37 chr17:g.61996255A>T
gnomAD v3:
17:63918895 A / T
gnomAD v4:
chr17-63918895-A-T
Joint Max Group AF 0.00002606 (AFR)
Genomes Max Group AF 0.00003291 (AFR)
Exomes Max Group AF 0.00000387 (NFE)
dbSNP:
2005172
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63918895A>T , CM000679.2:g.63918895A>T GRCh38
NC_000017.10:g.61996255A>T , CM000679.1:g.61996255A>T GRCh37
NC_000017.9:g.59349987A>T NCBI36
NG_011676.1:g.4944T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647774.1:c.289-389T>A
Search 100 bp 5'
Search 100 bp 3'