Canonical Allele Identifier: CA2544493106

Gene: ANKFN1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56115219G>C , CM000679.2:g.56115219G>C	GRCh38
NC_000017.10:g.54192580G>C , CM000679.1:g.54192580G>C	GRCh37
NC_000017.9:g.51547579G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000635860.2:c.288+68894G>C	ENSP00000489811.2:n.288+68894G>C
ENST00000635860.1:c.288+68894G>C	ENSP00000489811.1:n.288+68894G>C
ENST00000653862.1:c.462+68894G>C	ENSP00000499705.1:n.462+68894G>C
ENST00000575594.1:n.89+4173G>C
XM_011524425.1:c.-78+4173G>C	XP_011522727.1:n.-78+4173G>C
XM_011524430.1:c.-261+4173G>C	XP_011522732.1:n.-261+4173G>C
XM_011524431.1:c.-193+4173G>C	XP_011522733.1:n.-193+4173G>C
XM_011524432.1:c.288+68894G>C	XP_011522734.1:n.288+68894G>C
XM_011524430.2:c.-261+4173G>C	XP_011522732.1:n.-261+4173G>C
XM_011524431.2:c.-193+4173G>C	XP_011522733.1:n.-193+4173G>C
XM_017024263.1:c.-78+4173G>C	XP_016879752.1:n.-78+4173G>C
XM_017024270.2:c.-78+4173G>C	XP_016879759.1:n.-78+4173G>C