Canonical Allele Identifier: CA984869403
Gene: ANKFN1 HGNC NCBI

Linked Data

dbSNP Id: rs1906185793
gnomAD v3: 17-56115114-C-A
gnomAD v4: 17-56115114-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56115114C>A , CM000679.2:g.56115114C>A GRCh38
NC_000017.10:g.54192475C>A , CM000679.1:g.54192475C>A GRCh37
NC_000017.9:g.51547474C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000635860.2:c.288+68789C>A ENSP00000489811.2:n.288+68789C>A
ENST00000635860.1:c.288+68789C>A ENSP00000489811.1:n.288+68789C>A
ENST00000653862.1:c.462+68789C>A ENSP00000499705.1:n.462+68789C>A
ENST00000575594.1:n.89+4068C>A
XM_011524425.1:c.-78+4068C>A XP_011522727.1:n.-78+4068C>A
XM_011524430.1:c.-261+4068C>A XP_011522732.1:n.-261+4068C>A
XM_011524431.1:c.-193+4068C>A XP_011522733.1:n.-193+4068C>A
XM_011524432.1:c.288+68789C>A XP_011522734.1:n.288+68789C>A
XM_011524430.2:c.-261+4068C>A XP_011522732.1:n.-261+4068C>A
XM_011524431.2:c.-193+4068C>A XP_011522733.1:n.-193+4068C>A
XM_017024263.1:c.-78+4068C>A XP_016879752.1:n.-78+4068C>A
XM_017024270.2:c.-78+4068C>A XP_016879759.1:n.-78+4068C>A
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