Canonical Allele Identifier: CA471342231
Gene: CFAP43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105921767G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104162009G>A , CM000672.2:g.104162009G>A GRCh38
NC_000010.10:g.105921767G>A , CM000672.1:g.105921767G>A GRCh37
NC_000010.9:g.105911757G>A NCBI36
NG_051581.1:g.75369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357060.8:c.3366C>T MANE Select ENSP00000349568.3:p.Asp1122=
ENST00000357060.7:c.3366C>T ENSP00000349568.3:p.Asp1122=
ENST00000434629.5:c.1448C>T
NM_025145.5:c.3366C>T NP_079421.5:p.Asp1122=
XM_005270171.1:c.3369C>T XP_005270228.1:p.Asp1123=
XM_005270172.2:c.3369C>T XP_005270229.1:p.Asp1123=
XM_011540196.1:c.3483C>T XP_011538498.1:p.Asp1161=
XM_011540197.1:c.3483C>T XP_011538499.1:p.Asp1161=
XM_011540198.1:c.3366C>T XP_011538500.1:p.Asp1122=
XM_011540199.1:c.3366C>T XP_011538501.1:p.Asp1122=
XM_011540200.1:c.3483C>T XP_011538502.1:p.Asp1161=
XM_011540201.1:c.3483C>T XP_011538503.1:p.Asp1161=
XM_011540202.1:c.2712C>T XP_011538504.1:p.Asp904=
XM_011540203.1:c.1266C>T XP_011538505.1:p.Asp422=
NM_025145.6:c.3366C>T NP_079421.5:p.Asp1122=
XM_005270171.2:c.3369C>T XP_005270228.1:p.Asp1123=
XM_005270172.3:c.3369C>T XP_005270229.1:p.Asp1123=
XM_011540196.2:c.3483C>T XP_011538498.1:p.Asp1161=
XM_011540197.2:c.3483C>T XP_011538499.1:p.Asp1161=
XM_011540198.2:c.3366C>T XP_011538500.1:p.Asp1122=
XM_011540199.2:c.3366C>T XP_011538501.1:p.Asp1122=
XM_011540200.2:c.3483C>T XP_011538502.1:p.Asp1161=
XM_011540201.2:c.3483C>T XP_011538503.1:p.Asp1161=
XM_011540202.2:c.2712C>T XP_011538504.1:p.Asp904=
XM_017016681.1:c.3480C>T XP_016872170.1:p.Asp1160=
XM_017016682.1:c.3135C>T XP_016872171.1:p.Asp1045=
XM_024448177.1:c.1869C>T XP_024303945.1:p.Asp623=
XM_024448178.1:c.1266C>T XP_024303946.1:p.Asp422=
XR_002957015.1:n.3252C>T
NM_025145.7:c.3366C>T MANE Select NP_079421.5:p.Asp1122=