Canonical Allele Identifier: CA378089226
Community Standard Title: NM_025145.7(CFAP43):c.3541-2A>C
Gene: CFAP43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104152728T>G , CM000672.2:g.104152728T>G GRCh38
NC_000010.10:g.105912486T>G , CM000672.1:g.105912486T>G GRCh37
NC_000010.9:g.105902476T>G NCBI36
NG_051581.1:g.84650A>C

Transcript Alleles

HGVS Amino-acid Change
NM_025145.7:c.3541-2A>C MANE Select NP_079421.5:n.3541-2A>C
ENST00000357060.8:c.3541-2A>C MANE Select ENSP00000349568.3:n.3541-2A>C
NM_025145.5:c.3541-2A>C NP_079421.5:n.3541-2A>C
NM_025145.6:c.3541-2A>C NP_079421.5:n.3541-2A>C
ENST00000357060.7:c.3541-2A>C ENSP00000349568.3:n.3541-2A>C
ENST00000434629.5:c.1623-2A>C
ENST00000457071.5:c.87-2A>C
XM_005270171.1:c.3544-2A>C XP_005270228.1:n.3544-2A>C
XM_005270171.2:c.3544-2A>C XP_005270228.1:n.3544-2A>C
XM_005270172.2:c.3544-2A>C XP_005270229.1:n.3544-2A>C
XM_005270172.3:c.3544-2A>C XP_005270229.1:n.3544-2A>C
XM_011540196.1:c.3658-2A>C XP_011538498.1:n.3658-2A>C
XM_011540196.2:c.3658-2A>C XP_011538498.1:n.3658-2A>C
XM_011540197.1:c.3658-2A>C XP_011538499.1:n.3658-2A>C
XM_011540197.2:c.3658-2A>C XP_011538499.1:n.3658-2A>C
XM_011540198.1:c.3541-2A>C XP_011538500.1:n.3541-2A>C
XM_011540198.2:c.3541-2A>C XP_011538500.1:n.3541-2A>C
XM_011540199.1:c.3541-2A>C XP_011538501.1:n.3541-2A>C
XM_011540199.2:c.3541-2A>C XP_011538501.1:n.3541-2A>C
XM_011540200.1:c.3658-2A>C XP_011538502.1:n.3658-2A>C
XM_011540200.2:c.3658-2A>C XP_011538502.1:n.3658-2A>C
XM_011540201.1:c.3658-2A>C XP_011538503.1:n.3658-2A>C
XM_011540201.2:c.3658-2A>C XP_011538503.1:n.3658-2A>C
XM_011540202.1:c.2887-2A>C XP_011538504.1:n.2887-2A>C
XM_011540202.2:c.2887-2A>C XP_011538504.1:n.2887-2A>C
XM_011540203.1:c.1441-2A>C XP_011538505.1:n.1441-2A>C
XM_017016681.1:c.3655-2A>C XP_016872170.1:n.3655-2A>C
XM_017016682.1:c.3310-2A>C XP_016872171.1:n.3310-2A>C
XM_024448177.1:c.2044-2A>C XP_024303945.1:n.2044-2A>C
XM_024448178.1:c.1441-2A>C XP_024303946.1:n.1441-2A>C
XR_002957015.1:n.3427-2A>C