Canonical Allele Identifier: CA1704937
Gene: ZNF638 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.71427045G>A , CM000664.2:g.71427045G>A GRCh38
NC_000002.11:g.71654175G>A , CM000664.1:g.71654175G>A GRCh37
NC_000002.10:g.71507683G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264447.9:c.5176G>A MANE Select ENSP00000264447.4:p.Val1726Met
ENST00000264447.8:c.5176G>A ENSP00000264447.4:p.Val1726Met
ENST00000409407.4:n.3456G>A
ENST00000409544.5:c.5176G>A ENSP00000386433.1:p.Val1726Met
ENST00000483421.7:n.1070G>A
ENST00000487638.5:n.3221G>A
ENST00000493576.6:c.200G>A
NM_001014972.2:c.5176G>A NP_001014972.1:p.Val1726Met
NM_001252612.1:c.5176G>A NP_001239541.1:p.Val1726Met
NM_001252613.1:c.5176G>A NP_001239542.1:p.Val1726Met
NM_014497.4:c.5176G>A NP_055312.2:p.Val1726Met
XM_005264263.1:c.3643G>A XP_005264320.1:p.Val1215Met
XM_006711989.1:c.3643G>A XP_006712052.1:p.Val1215Met
XM_011532767.1:c.5176G>A XP_011531069.1:p.Val1726Met
XM_011532768.1:c.5050G>A XP_011531070.1:p.Val1684Met
XM_011532769.1:c.5176G>A XP_011531071.1:p.Val1726Met
XR_939678.1:n.4066G>A
XM_011532768.3:c.5368G>A XP_011531070.2:p.Val1790Met
XM_017003809.2:c.5494G>A XP_016859298.1:p.Val1832Met
XM_017003810.2:c.5050G>A XP_016859299.1:p.Val1684Met
XR_001738706.2:n.3538-1502G>A
XR_001738707.2:n.3602-1502G>A
XR_002959264.1:n.3664-4282G>A
XR_002959265.1:n.3664-1502G>A
XR_002959266.1:n.5523-1502G>A
XR_939678.3:n.4315G>A
NM_014497.5:c.5176G>A MANE Select NP_055312.2:p.Val1726Met
NM_001014972.3:c.5176G>A NP_001014972.1:p.Val1726Met
NM_001252612.2:c.5176G>A NP_001239541.1:p.Val1726Met
NM_001252613.2:c.5176G>A NP_001239542.1:p.Val1726Met