Canonical Allele Identifier: CA391523080

Gene: FAN1

Linked Data

• gnomAD v4: 15-30905375-G-A
• MyVariant Identifiers: chr15:g.31197578G>A (hg19) ; chr15:g.30905375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30905375G>A , CM000677.2:g.30905375G>A	GRCh38
NC_000015.9:g.31197578G>A , CM000677.1:g.31197578G>A	GRCh37
NC_000015.8:g.28984870G>A	NCBI36
NG_032946.1:g.6524G>A
NG_032946.2:g.6524G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.712G>A MANE Select	ENSP00000354497.4:p.Glu238Lys
ENST00000561607.6:c.712G>A	ENSP00000454223.1:p.Glu238Lys
ENST00000562892.2:c.-57+785G>A	ENSP00000457680.2:n.-57+785G>A
ENST00000568145.6:n.110+785G>A
ENST00000602886.2:n.889G>A
ENST00000654013.1:n.988G>A
ENST00000654056.1:c.-57+785G>A	ENSP00000499726.1:n.-57+785G>A
ENST00000655421.1:n.983G>A
ENST00000656109.1:n.179+785G>A
ENST00000656307.1:n.964G>A
ENST00000656435.1:c.712G>A	ENSP00000499534.1:p.Glu238Lys
ENST00000657391.1:c.712G>A	ENSP00000499703.1:p.Glu238Lys
ENST00000658773.1:c.712G>A	ENSP00000499742.1:p.Glu238Lys
ENST00000661974.1:c.206G>A
ENST00000662114.1:n.968G>A
ENST00000664070.1:c.712G>A	ENSP00000499478.1:p.Glu238Lys
ENST00000664837.1:c.-57+785G>A	ENSP00000499780.1:n.-57+785G>A
ENST00000665705.1:n.951G>A
ENST00000665894.1:n.972G>A
ENST00000666143.1:c.-229-350G>A	ENSP00000499576.1:n.-229-350G>A
ENST00000666852.1:n.964G>A
ENST00000667837.1:n.965+22G>A
ENST00000670074.1:c.690+22G>A	ENSP00000499252.1:n.690+22G>A
ENST00000670849.1:c.712G>A	ENSP00000499638.1:p.Glu238Lys
ENST00000362065.8:c.712G>A	ENSP00000354497.4:p.Glu238Lys
ENST00000561594.5:c.712G>A	ENSP00000455983.1:p.Glu238Lys
ENST00000561607.5:c.712G>A	ENSP00000454223.1:p.Glu238Lys
ENST00000562892.1:c.52+785G>A	ENSP00000457680.1:n.52+785G>A
ENST00000565280.5:c.712G>A	ENSP00000455573.1:p.Glu238Lys
ENST00000565466.5:c.712G>A	ENSP00000454544.1:p.Glu238Lys
NM_001146094.1:c.712G>A	NP_001139566.1:p.Glu238Lys
NM_001146095.1:c.712G>A	NP_001139567.1:p.Glu238Lys
NM_001146096.1:c.712G>A	NP_001139568.1:p.Glu238Lys
NM_014967.4:c.712G>A	NP_055782.3:p.Glu238Lys
XM_005254232.3:c.712G>A	XP_005254289.1:p.Glu238Lys
XM_005254234.3:c.712G>A	XP_005254291.1:p.Glu238Lys
XM_005254235.3:c.712G>A	XP_005254292.1:p.Glu238Lys
XM_005254236.2:c.712G>A	XP_005254293.1:p.Glu238Lys
XM_011521370.1:c.52+785G>A	XP_011519672.1:n.52+785G>A
XM_011521371.1:c.-608G>A	XP_011519673.1:n.-608G>A
XM_011521372.1:c.712G>A	XP_011519674.1:p.Glu238Lys
XM_005254232.4:c.712G>A	XP_005254289.1:p.Glu238Lys
XM_005254234.5:c.712G>A	XP_005254291.1:p.Glu238Lys
XM_011521370.2:c.52+785G>A	XP_011519672.1:n.52+785G>A
XM_011521372.2:c.712G>A	XP_011519674.1:p.Glu238Lys
XM_017022012.2:c.-758G>A	XP_016877501.1:n.-758G>A
XM_017022013.1:c.-758G>A	XP_016877502.1:n.-758G>A
XM_024449874.1:c.-608G>A	XP_024305642.1:n.-608G>A
XR_001751149.1:n.1011G>A
XR_001751151.1:n.1007G>A
NM_014967.5:c.712G>A MANE Select	NP_055782.3:p.Glu238Lys
NM_001146094.2:c.712G>A	NP_001139566.1:p.Glu238Lys
NM_001146096.2:c.712G>A	NP_001139568.1:p.Glu238Lys