Canonical Allele Identifier: CA10691343
Gene: KIFAP3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.170074763G>C
GRCh37 chr1:g.170043904G>C
gnomAD v2:
1:170043904 G / C
gnomAD v3:
1:170074763 G / C
gnomAD v4:
chr1-170074763-G-C
Joint Max Group AF 0.98572766 (EAS)
Genomes Max Group AF 0.9705 (EAS)
Exomes Max Group AF 0.9851997 (EAS)
dbSNP:
522444
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.170074763G>C , CM000663.2:g.170074763G>C GRCh38
NC_000001.10:g.170043904G>C , CM000663.1:g.170043904G>C GRCh37
NC_000001.9:g.168310528G>C NCBI36
NG_012883.2:g.4976C>G
NG_012883.3:g.4976C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000490550.1:n.174+10272C>G
XM_024454186.1:c.77+10272C>G XP_024309954.1:n.77+10272C>G
XM_024454187.1:c.77+10272C>G XP_024309955.1:n.77+10272C>G
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