Canonical Allele Identifier: CA447718250
Gene: RNF44 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.176529270A>G , CM000667.2:g.176529270A>G GRCh38
NC_000005.9:g.175956271A>G , CM000667.1:g.175956271A>G GRCh37
NC_000005.8:g.175888877A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000274811.9:c.1236+18T>C MANE Select ENSP00000274811.4:n.1236+18T>C
ENST00000274811.8:c.1236+18T>C ENSP00000274811.4:n.1236+18T>C
ENST00000506378.1:c.517T>C
ENST00000513029.5:c.*1034+18T>C ENSP00000427604.1:n.*1034+18T>C
ENST00000515051.1:n.404T>C
NM_014901.4:c.1236+18T>C NP_055716.1:n.1236+18T>C
XM_005265840.1:c.1236+18T>C XP_005265897.1:n.1236+18T>C
XM_005265841.3:c.1236+18T>C XP_005265898.1:n.1236+18T>C
XM_005265842.3:c.993+18T>C XP_005265899.1:n.993+18T>C
XM_005265843.1:c.993+18T>C XP_005265900.1:n.993+18T>C
XM_005265844.3:c.993+18T>C XP_005265901.1:n.993+18T>C
XM_005265845.3:c.993+18T>C XP_005265902.1:n.993+18T>C
XM_006714831.1:c.1227+18T>C XP_006714894.1:n.1227+18T>C
XM_006714832.1:c.1095+18T>C XP_006714895.1:n.1095+18T>C
XM_011534466.1:c.1236+18T>C XP_011532768.1:n.1236+18T>C
XM_011534467.1:c.993+18T>C XP_011532769.1:n.993+18T>C
XR_941091.1:n.1512+18T>C
XM_005265840.2:c.1236+18T>C XP_005265897.1:n.1236+18T>C
XM_005265841.4:c.1236+18T>C XP_005265898.1:n.1236+18T>C
XM_005265842.5:c.993+18T>C XP_005265899.1:n.993+18T>C
XM_005265843.2:c.993+18T>C XP_005265900.1:n.993+18T>C
XM_005265845.4:c.993+18T>C XP_005265902.1:n.993+18T>C
XM_006714831.2:c.1227+18T>C XP_006714894.1:n.1227+18T>C
XM_006714832.2:c.1095+18T>C XP_006714895.1:n.1095+18T>C
XM_011534466.3:c.1236+18T>C XP_011532768.1:n.1236+18T>C
XM_011534467.2:c.993+18T>C XP_011532769.1:n.993+18T>C
XM_024446002.1:c.852+18T>C XP_024301770.1:n.852+18T>C
XR_941091.2:n.1504+18T>C
NM_014901.5:c.1236+18T>C MANE Select NP_055716.1:n.1236+18T>C