Canonical Allele Identifier: CA389912533
Gene: SIX4 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.60713945C>T
GRCh37 chr14:g.61180663C>T
Revel Score:
ENST00000216513 (MANE Select) 0.370
ENST00000554079 0.370
gnomAD v2:
14:61180663 C / T
gnomAD v4:
chr14-60713945-C-T
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
2288090
ClinVar RCV:
RCV004149626
ClinVar Variation:
2298730
dbSNP:
1336323089
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60713945C>T , CM000676.2:g.60713945C>T GRCh38
NC_000014.8:g.61180663C>T , CM000676.1:g.61180663C>T GRCh37
NC_000014.7:g.60250416C>T NCBI36
NG_021182.1:g.15190G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216513.5:c.1808G>A MANE Select ENSP00000216513.4:p.Gly603Asp
ENST00000216513.4:c.1808G>A ENSP00000216513.4:p.Gly603Asp
ENST00000554079.1:n.1225G>A
NM_017420.4:c.1808G>A NP_059116.3:p.Gly603Asp
XM_005267759.1:c.1784G>A XP_005267816.1:p.Gly595Asp
XM_005267759.2:c.1784G>A XP_005267816.1:p.Gly595Asp
XR_001750375.2:n.2044G>A
NM_017420.5:c.1808G>A MANE Select NP_059116.3:p.Gly603Asp
Search 100 bp 5'
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