Canonical Allele Identifier: CA489642985

Gene: FAN1

Linked Data

• dbSNP Id: rs2061952823
• gnomAD v3: 15-30905389-A-G
• gnomAD v4: 15-30905389-A-G
• MyVariant Identifiers: chr15:g.31197592A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30905389A>G , CM000677.2:g.30905389A>G	GRCh38
NC_000015.9:g.31197592A>G , CM000677.1:g.31197592A>G	GRCh37
NC_000015.8:g.28984884A>G	NCBI36
NG_032946.1:g.6538A>G
NG_032946.2:g.6538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362065.9:c.726A>G MANE Select	ENSP00000354497.4:p.Gln242=
ENST00000561607.6:c.726A>G	ENSP00000454223.1:p.Gln242=
ENST00000562892.2:c.-57+799A>G	ENSP00000457680.2:n.-57+799A>G
ENST00000568145.6:n.110+799A>G
ENST00000602886.2:n.903A>G
ENST00000654013.1:n.1002A>G
ENST00000654056.1:c.-57+799A>G	ENSP00000499726.1:n.-57+799A>G
ENST00000655421.1:n.997A>G
ENST00000656109.1:n.179+799A>G
ENST00000656307.1:n.978A>G
ENST00000656435.1:c.726A>G	ENSP00000499534.1:p.Gln242=
ENST00000657391.1:c.726A>G	ENSP00000499703.1:p.Gln242=
ENST00000658773.1:c.726A>G	ENSP00000499742.1:p.Gln242=
ENST00000661974.1:c.220A>G
ENST00000662114.1:n.982A>G
ENST00000664070.1:c.726A>G	ENSP00000499478.1:p.Gln242=
ENST00000664837.1:c.-57+799A>G	ENSP00000499780.1:n.-57+799A>G
ENST00000665705.1:n.965A>G
ENST00000665894.1:n.986A>G
ENST00000666143.1:c.-229-336A>G	ENSP00000499576.1:n.-229-336A>G
ENST00000666852.1:n.978A>G
ENST00000667837.1:n.965+36A>G
ENST00000670074.1:c.690+36A>G	ENSP00000499252.1:n.690+36A>G
ENST00000670849.1:c.726A>G	ENSP00000499638.1:p.Gln242=
ENST00000362065.8:c.726A>G	ENSP00000354497.4:p.Gln242=
ENST00000561594.5:c.726A>G	ENSP00000455983.1:p.Gln242=
ENST00000561607.5:c.726A>G	ENSP00000454223.1:p.Gln242=
ENST00000562892.1:c.52+799A>G	ENSP00000457680.1:n.52+799A>G
ENST00000565280.5:c.726A>G	ENSP00000455573.1:p.Gln242=
ENST00000565466.5:c.726A>G	ENSP00000454544.1:p.Gln242=
NM_001146094.1:c.726A>G	NP_001139566.1:p.Gln242=
NM_001146095.1:c.726A>G	NP_001139567.1:p.Gln242=
NM_001146096.1:c.726A>G	NP_001139568.1:p.Gln242=
NM_014967.4:c.726A>G	NP_055782.3:p.Gln242=
XM_005254232.3:c.726A>G	XP_005254289.1:p.Gln242=
XM_005254234.3:c.726A>G	XP_005254291.1:p.Gln242=
XM_005254235.3:c.726A>G	XP_005254292.1:p.Gln242=
XM_005254236.2:c.726A>G	XP_005254293.1:p.Gln242=
XM_011521370.1:c.52+799A>G	XP_011519672.1:n.52+799A>G
XM_011521371.1:c.-594A>G	XP_011519673.1:n.-594A>G
XM_011521372.1:c.726A>G	XP_011519674.1:p.Gln242=
XM_005254232.4:c.726A>G	XP_005254289.1:p.Gln242=
XM_005254234.5:c.726A>G	XP_005254291.1:p.Gln242=
XM_011521370.2:c.52+799A>G	XP_011519672.1:n.52+799A>G
XM_011521372.2:c.726A>G	XP_011519674.1:p.Gln242=
XM_017022012.2:c.-744A>G	XP_016877501.1:n.-744A>G
XM_017022013.1:c.-744A>G	XP_016877502.1:n.-744A>G
XM_024449874.1:c.-594A>G	XP_024305642.1:n.-594A>G
XR_001751149.1:n.1025A>G
XR_001751151.1:n.1021A>G
NM_014967.5:c.726A>G MANE Select	NP_055782.3:p.Gln242=
NM_001146094.2:c.726A>G	NP_001139566.1:p.Gln242=
NM_001146096.2:c.726A>G	NP_001139568.1:p.Gln242=