Canonical Allele Identifier: CA463565664

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1145618
• ClinVar RCV Id: RCV001484522
• dbSNP Id: rs2130653895
• MyVariant Identifiers: chr8:g.145737297G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511914G>C , CM000670.2:g.144511914G>C	GRCh38
NC_000008.10:g.145737297G>C , CM000670.1:g.145737297G>C	GRCh37
NC_000008.9:g.145708105G>C	NCBI36
NG_016430.1:g.10913C>G
NG_016430.2:g.10913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3390C>G MANE Select	ENSP00000482313.2:p.Ala1130=
ENST00000301323.7:c.407C>G
ENST00000529424.2:n.50-125C>G
ENST00000531875.2:c.636C>G	ENSP00000477910.1:p.Ala212=
ENST00000617875.4:c.3390C>G	ENSP00000482313.1:p.Ala1130=
ENST00000621189.4:c.2319C>G	ENSP00000483145.1:p.Ala773=
NM_004260.3:c.3390C>G	NP_004251.3:p.Ala1130=
XM_011517380.1:c.3465C>G	XP_011515682.1:p.Ala1155=
XM_011517381.1:c.3369C>G	XP_011515683.1:p.Ala1123=
XM_011517382.1:c.3273C>G	XP_011515684.1:p.Ala1091=
XM_011517383.1:c.3267C>G	XP_011515685.1:p.Ala1089=
XM_011517384.1:c.3192C>G	XP_011515686.1:p.Ala1064=
XM_011517385.1:c.2328C>G	XP_011515687.1:p.Ala776=
XR_928366.1:n.3353-125C>G
XR_928367.1:n.3445C>G
XR_928368.1:n.3338C>G
XM_011517384.3:c.3192C>G	XP_011515686.1:p.Ala1064=
XM_017013991.2:c.3555C>G	XP_016869480.1:p.Ala1185=
XM_017013992.2:c.3480C>G	XP_016869481.1:p.Ala1160=
XM_017013993.2:c.3465C>G	XP_016869482.1:p.Ala1155=
XM_017013994.2:c.3459C>G	XP_016869483.1:p.Ala1153=
XM_017013995.2:c.3390C>G	XP_016869484.1:p.Ala1130=
XM_017013996.2:c.3555C>G	XP_016869485.1:p.Ala1185=
XM_017013997.2:c.3357C>G	XP_016869486.1:p.Ala1119=
XM_017013998.1:c.3480C>G	XP_016869487.1:p.Ala1160=
XM_017013999.2:c.3267C>G	XP_016869488.1:p.Ala1089=
XM_017014000.1:c.2418C>G	XP_016869489.1:p.Ala806=
XM_017014001.2:c.2328C>G	XP_016869490.1:p.Ala776=
XR_001745626.2:n.3439-125C>G
XR_001745627.2:n.3531C>G
XR_001745628.2:n.3422C>G
XR_001745629.2:n.3285C>G
XR_001745630.2:n.3087C>G
NM_004260.4:c.3390C>G MANE Select	NP_004251.4:p.Ala1130=