Canonical Allele Identifier: CA351460
Gene: CFD HGNC NCBI

Linked Data

dbSNP Id: rs267606720
gnomAD v2: 19-863114-T-G
gnomAD v4: 19-863114-T-G
MyVariant Identifiers: chr19:g.863114T>G (hg19) chr19:g.863114T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.863114T>G , CM000681.2:g.863114T>G GRCh38
NC_000019.9:g.863114T>G , CM000681.1:g.863114T>G GRCh37
NC_000019.8:g.814114T>G NCBI36
NG_007274.1:g.8450T>G , LRG_46:g.8450T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000592860.3:c.659T>G ENSP00000468253.1:p.Val220Gly
ENST00000695942.1:c.521T>G ENSP00000512275.1:p.Val174Gly
ENST00000695943.1:c.521T>G ENSP00000512276.1:p.Val174Gly
ENST00000695944.1:c.521T>G ENSP00000512277.1:p.Val174Gly
ENST00000695945.1:c.587T>G ENSP00000512278.1:p.Val196Gly
ENST00000695946.1:c.258+1158T>G ENSP00000512279.1:n.258+1158T>G
ENST00000327726.11:c.638T>G MANE Select ENSP00000332139.4:p.Val213Gly
ENST00000327726.10:c.638T>G ENSP00000332139.4:p.Val213Gly
ENST00000592860.2:c.659T>G ENSP00000468253.1:p.Val220Gly
NM_001928.2:c.638T>G , LRG_46t1:c.638T>G NP_001919.2:p.Val213Gly
NM_001317335.1:c.659T>G NP_001304264.1:p.Val220Gly
NM_001928.3:c.638T>G NP_001919.2:p.Val213Gly
NM_001317335.2:c.659T>G NP_001304264.1:p.Val220Gly
NM_001928.4:c.638T>G MANE Select NP_001919.2:p.Val213Gly
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