Canonical Allele Identifier: CA626312083

Gene: ANKFN1

Linked Data

• dbSNP Id: rs1019238
• gnomAD v2: 17-54278715-G-C
• gnomAD v3: 17-56201354-G-C
• gnomAD v4: 17-56201354-G-C
• MyVariant Identifiers: chr17:g.54278715G>C (hg19) ; chr17:g.56201354G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56201354G>C , CM000679.2:g.56201354G>C	GRCh38
NC_000017.10:g.54278715G>C , CM000679.1:g.54278715G>C	GRCh37
NC_000017.9:g.51633714G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000635860.2:c.289-26563G>C	ENSP00000489811.2:n.289-26563G>C
ENST00000682825.1:c.-70-11244G>C MANE Select	ENSP00000507365.1:n.-70-11244G>C
ENST00000635860.1:c.289-26563G>C	ENSP00000489811.1:n.289-26563G>C
ENST00000653862.1:c.463-26563G>C	ENSP00000499705.1:n.463-26563G>C
ENST00000318698.6:c.22-26563G>C	ENSP00000321627.2:n.22-26563G>C
ENST00000566473.6:c.22-26563G>C	ENSP00000454224.2:n.22-26563G>C
ENST00000572945.1:c.82-26563G>C	ENSP00000458227.1:n.82-26563G>C
ENST00000574292.5:n.380-5132G>C
ENST00000575594.1:n.90-26563G>C
NM_153228.2:c.22-26563G>C	NP_694960.2:n.22-26563G>C
XM_011524425.1:c.-9-5132G>C	XP_011522727.1:n.-9-5132G>C
XM_011524427.1:c.22-26563G>C	XP_011522729.1:n.22-26563G>C
XM_011524428.1:c.22-26563G>C	XP_011522730.1:n.22-26563G>C
XM_011524430.1:c.-193+16538G>C	XP_011522732.1:n.-193+16538G>C
XM_011524431.1:c.-192-26563G>C	XP_011522733.1:n.-192-26563G>C
XM_011524432.1:c.289-26563G>C	XP_011522734.1:n.289-26563G>C
NM_001365758.1:c.-193+16538G>C	NP_001352687.1:n.-193+16538G>C
XM_011524428.2:c.22-26563G>C	XP_011522730.1:n.22-26563G>C
XM_011524430.2:c.-193+16538G>C	XP_011522732.1:n.-193+16538G>C
XM_011524431.2:c.-192-26563G>C	XP_011522733.1:n.-192-26563G>C
XM_017024263.1:c.-9-5132G>C	XP_016879752.1:n.-9-5132G>C
XM_017024264.1:c.-9-5132G>C	XP_016879753.1:n.-9-5132G>C
XM_017024265.2:c.-9-5132G>C	XP_016879754.1:n.-9-5132G>C
XM_017024270.2:c.-9-5132G>C	XP_016879759.1:n.-9-5132G>C
NM_001370326.1:c.-70-11244G>C MANE Select	NP_001357255.1:n.-70-11244G>C
NM_153228.3:c.22-26563G>C	NP_694960.2:n.22-26563G>C