Canonical Allele Identifier: CA11901726
Gene: FAM13A HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.88965146C>T
GRCh37 chr4:g.89886297C>T
gnomAD v2:
4:89886297 C / T
gnomAD v3:
4:88965146 C / T
gnomAD v4:
chr4-88965146-C-T
Joint Max Group AF 0.66019193 (SAS)
Genomes Max Group AF 0.66019193 (SAS)
ClinVar RCV:
RCV001328404
ClinVar Variation:
1027617
dbSNP:
1903003
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88965146C>T , CM000666.2:g.88965146C>T GRCh38
NC_000004.11:g.89886297C>T , CM000666.1:g.89886297C>T GRCh37
NC_000004.10:g.90105320C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264344.10:c.605+25827G>A MANE Select ENSP00000264344.5:n.605+25827G>A
ENST00000264344.9:c.605+25827G>A ENSP00000264344.5:n.605+25827G>A
ENST00000502459.5:n.1063+25827G>A
ENST00000509094.5:c.605+25827G>A ENSP00000426517.1:n.605+25827G>A
ENST00000511976.5:c.-22-26905G>A ENSP00000421914.1:n.-22-26905G>A
ENST00000512339.5:c.428-26905G>A ENSP00000423800.1:n.428-26905G>A
NM_014883.3:c.605+25827G>A NP_055698.2:n.605+25827G>A
XM_005262681.2:c.605+25827G>A XP_005262738.1:n.605+25827G>A
XM_005262682.2:c.545+25827G>A XP_005262739.1:n.545+25827G>A
XM_005262683.2:c.605+25827G>A XP_005262740.1:n.605+25827G>A
XM_005262684.2:c.-22-26905G>A XP_005262741.1:n.-22-26905G>A
XM_011531516.1:c.605+25827G>A XP_011529818.1:n.605+25827G>A
XM_011531517.1:c.605+25827G>A XP_011529819.1:n.605+25827G>A
XM_011531518.1:c.47+25827G>A XP_011529820.1:n.47+25827G>A
XM_011531519.1:c.47+25827G>A XP_011529821.1:n.47+25827G>A
XM_011531520.1:c.-22-26905G>A XP_011529822.1:n.-22-26905G>A
XM_005262681.3:c.605+25827G>A XP_005262738.1:n.605+25827G>A
XM_005262683.3:c.605+25827G>A XP_005262740.1:n.605+25827G>A
XM_005262684.4:c.-22-26905G>A XP_005262741.1:n.-22-26905G>A
XM_011531517.2:c.605+25827G>A XP_011529819.1:n.605+25827G>A
XM_011531519.3:c.47+25827G>A XP_011529821.1:n.47+25827G>A
XM_017007624.2:c.605+25827G>A XP_016863113.1:n.605+25827G>A
XM_017007625.1:c.440+25827G>A XP_016863114.1:n.440+25827G>A
XM_017007626.1:c.75-26905G>A XP_016863115.1:n.75-26905G>A
XM_017007627.1:c.-22-26905G>A XP_016863116.1:n.-22-26905G>A
XM_017007628.2:c.-22-26905G>A XP_016863117.1:n.-22-26905G>A
XM_017007629.2:c.-1986+25827G>A XP_016863118.1:n.-1986+25827G>A
XM_017007630.2:c.-58+55314G>A XP_016863119.1:n.-58+55314G>A
XM_017007631.2:c.-1986+25827G>A XP_016863120.1:n.-1986+25827G>A
XM_017007632.2:c.-58+55314G>A XP_016863121.1:n.-58+55314G>A
XM_017007633.2:c.-2049+25827G>A XP_016863122.1:n.-2049+25827G>A
XM_024453870.1:c.605+25827G>A XP_024309638.1:n.605+25827G>A
NM_014883.4:c.605+25827G>A MANE Select NP_055698.2:n.605+25827G>A
Search 100 bp 5'
Search 100 bp 3'