Canonical Allele Identifier: CA347214103
Gene: ZNF638 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000264447.9:c.5176G>C MANE Select ENSP00000264447.4:p.Val1726Leu
ENST00000264447.8:c.5176G>C ENSP00000264447.4:p.Val1726Leu
ENST00000409407.4:n.3456G>C
ENST00000409544.5:c.5176G>C ENSP00000386433.1:p.Val1726Leu
ENST00000483421.7:n.1070G>C
ENST00000487638.5:n.3221G>C
ENST00000493576.6:c.200G>C
NM_001014972.2:c.5176G>C NP_001014972.1:p.Val1726Leu
NM_001252612.1:c.5176G>C NP_001239541.1:p.Val1726Leu
NM_001252613.1:c.5176G>C NP_001239542.1:p.Val1726Leu
NM_014497.4:c.5176G>C NP_055312.2:p.Val1726Leu
XM_005264263.1:c.3643G>C XP_005264320.1:p.Val1215Leu
XM_006711989.1:c.3643G>C XP_006712052.1:p.Val1215Leu
XM_011532767.1:c.5176G>C XP_011531069.1:p.Val1726Leu
XM_011532768.1:c.5050G>C XP_011531070.1:p.Val1684Leu
XM_011532769.1:c.5176G>C XP_011531071.1:p.Val1726Leu
XR_939678.1:n.4066G>C
XM_011532768.3:c.5368G>C XP_011531070.2:p.Val1790Leu
XM_017003809.2:c.5494G>C XP_016859298.1:p.Val1832Leu
XM_017003810.2:c.5050G>C XP_016859299.1:p.Val1684Leu
XR_001738706.2:n.3538-1502G>C
XR_001738707.2:n.3602-1502G>C
XR_002959264.1:n.3664-4282G>C
XR_002959265.1:n.3664-1502G>C
XR_002959266.1:n.5523-1502G>C
XR_939678.3:n.4315G>C
NM_014497.5:c.5176G>C MANE Select NP_055312.2:p.Val1726Leu
NM_001014972.3:c.5176G>C NP_001014972.1:p.Val1726Leu
NM_001252612.2:c.5176G>C NP_001239541.1:p.Val1726Leu
NM_001252613.2:c.5176G>C NP_001239542.1:p.Val1726Leu