Canonical Allele Identifier: CA276454971
Gene: FAM234A HGNC NCBI

Linked Data

dbSNP Id: rs533100836
gnomAD v2: 16-310401-G-A
gnomAD v3: 16-260402-G-A
gnomAD v4: 16-260402-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.260402G>A , CM000678.2:g.260402G>A GRCh38
NC_000016.9:g.310401G>A , CM000678.1:g.310401G>A GRCh37
NC_000016.8:g.250402G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000301679.7:c.577+242G>A ENSP00000301679.2:n.577+242G>A
ENST00000399932.8:c.577+242G>A MANE Select ENSP00000382814.3:n.577+242G>A
ENST00000653392.1:c.577+242G>A ENSP00000499529.1:n.577+242G>A
ENST00000654053.1:c.577+242G>A ENSP00000499447.1:n.577+242G>A
ENST00000659283.1:c.577+242G>A ENSP00000499694.1:n.577+242G>A
ENST00000666018.1:c.577+242G>A ENSP00000499687.1:n.577+242G>A
ENST00000301678.7:c.577+242G>A ENSP00000301678.3:n.577+242G>A
ENST00000301679.6:c.577+242G>A ENSP00000301679.2:n.577+242G>A
ENST00000399932.7:c.577+242G>A ENSP00000382814.3:n.577+242G>A
ENST00000420046.5:c.577+242G>A ENSP00000398433.1:n.577+242G>A
ENST00000421000.1:c.364-11G>A
ENST00000449945.5:c.550+242G>A ENSP00000407669.1:n.550+242G>A
ENST00000453430.5:c.577+242G>A ENSP00000399150.1:n.577+242G>A
ENST00000600536.1:c.577+242G>A ENSP00000471331.1:n.577+242G>A
NM_001284497.1:c.577+242G>A NP_001271426.1:n.577+242G>A
NM_032039.3:c.577+242G>A NP_114428.1:n.577+242G>A
NR_104317.1:n.1028+242G>A
XM_005255622.1:c.577+242G>A XP_005255679.1:n.577+242G>A
XM_005255623.1:c.550+242G>A XP_005255680.1:n.550+242G>A
XM_006720957.1:c.577+242G>A XP_006721020.1:n.577+242G>A
XM_011522690.1:c.577+242G>A XP_011520992.1:n.577+242G>A
XM_011522691.1:c.577+242G>A XP_011520993.1:n.577+242G>A
XM_011522692.1:c.577+242G>A XP_011520994.1:n.577+242G>A
XM_011522693.1:c.577+242G>A XP_011520995.1:n.577+242G>A
XM_011522694.1:c.577+242G>A XP_011520996.1:n.577+242G>A
XM_005255623.3:c.550+242G>A XP_005255680.1:n.550+242G>A
XM_017023760.2:c.577+242G>A XP_016879249.1:n.577+242G>A
XM_017023761.1:c.577+242G>A XP_016879250.1:n.577+242G>A
XM_017023762.1:c.577+242G>A XP_016879251.1:n.577+242G>A
XM_017023763.2:c.550+242G>A XP_016879252.1:n.550+242G>A
XM_017023764.1:c.550+242G>A XP_016879253.1:n.550+242G>A
XM_017023765.2:c.550+242G>A XP_016879254.1:n.550+242G>A
NM_032039.4:c.577+242G>A MANE Select NP_114428.1:n.577+242G>A
NM_001284497.2:c.577+242G>A NP_001271426.1:n.577+242G>A
NR_104317.2:n.753+242G>A