Canonical Allele Identifier: CA3605612
Gene: FLT4 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.180603313C>G
GRCh37 chr5:g.180030313C>G
Revel Score:
ENST00000261937 (MANE Select) 0.087
gnomAD v2:
5:180030313 C / G
gnomAD v3:
5:180603313 C / G
gnomAD v4:
chr5-180603313-C-G
Joint Max Group AF 0.00106294 (NFE)
Genomes Max Group AF 0.00090145 (NFE)
Exomes Max Group AF 0.00106243 (NFE)
ClinVar RCV:
RCV000242364
RCV001699275
ClinVar Variation:
263056
dbSNP:
307821
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.180603313C>G , CM000667.2:g.180603313C>G GRCh38
NC_000005.9:g.180030313C>G , CM000667.1:g.180030313C>G GRCh37
NC_000005.8:g.179962919C>G NCBI36
NG_011536.1:g.51312G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261937.11:c.3971G>C MANE Select ENSP00000261937.6:p.Arg1324Pro
ENST00000261937.10:c.3971G>C ENSP00000261937.6:p.Arg1324Pro
ENST00000502603.5:n.671G>C
NM_182925.4:c.3971G>C NP_891555.2:p.Arg1324Pro
XM_011534477.1:c.4220G>C XP_011532779.1:p.Arg1407Pro
XM_011534478.1:c.4202G>C XP_011532780.1:p.Arg1401Pro
XM_011534479.1:c.*117G>C XP_011532781.1:n.*117G>C
XM_011534482.1:c.3989G>C XP_011532784.1:p.Arg1330Pro
XM_011534483.1:c.3911G>C XP_011532785.1:p.Arg1304Pro
XM_011534484.1:c.3512G>C XP_011532786.1:p.Arg1171Pro
XR_941095.1:n.4257G>C
XM_011534478.3:c.4202G>C XP_011532780.1:p.Arg1401Pro
XM_011534484.2:c.3512G>C XP_011532786.1:p.Arg1171Pro
XM_017009263.1:c.*117G>C XP_016864752.1:n.*117G>C
XM_017009268.1:c.3893G>C XP_016864757.1:p.Arg1298Pro
XR_001742050.2:n.4461G>C
NM_182925.5:c.3971G>C MANE Select NP_891555.2:p.Arg1324Pro
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