Canonical Allele Identifier: CA7329595
Gene:
MyVariant.info:
GRCh38 chr14:g.94612340G>A
GRCh37 chr14:g.95078677G>A
gnomAD v2:
14:95078677 G / A
gnomAD v3:
14:94612340 G / A
gnomAD v4:
chr14-94612340-G-A
Joint Max Group AF 0.00000514 (AFR)
Genomes Max Group AF 0.00000802 (AFR)
Exomes Max Group AF 0.0000043 (SAS)
dbSNP:
1884082
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94612340G>A , CM000676.2:g.94612340G>A GRCh38
NC_000014.8:g.95078677G>A , CM000676.1:g.95078677G>A GRCh37
NC_000014.7:g.94148430G>A NCBI36
NG_012879.1:g.4964G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553947.1:c.848G>A
Search 100 bp 5'
Search 100 bp 3'