Canonical Allele Identifier: CA372667933

Gene: RECQL4

Linked Data

• dbSNP Id: rs2130653917
• MyVariant Identifiers: chr8:g.145737298G>C (hg19) ; chr8:g.144511915G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511915G>C , CM000670.2:g.144511915G>C	GRCh38
NC_000008.10:g.145737298G>C , CM000670.1:g.145737298G>C	GRCh37
NC_000008.9:g.145708106G>C	NCBI36
NG_016430.1:g.10912C>G
NG_016430.2:g.10912C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3389C>G MANE Select	ENSP00000482313.2:p.Ala1130Gly
ENST00000301323.7:c.406C>G
ENST00000529424.2:n.50-126C>G
ENST00000531875.2:c.635C>G	ENSP00000477910.1:p.Ala212Gly
ENST00000617875.4:c.3389C>G	ENSP00000482313.1:p.Ala1130Gly
ENST00000621189.4:c.2318C>G	ENSP00000483145.1:p.Ala773Gly
NM_004260.3:c.3389C>G	NP_004251.3:p.Ala1130Gly
XM_011517380.1:c.3464C>G	XP_011515682.1:p.Ala1155Gly
XM_011517381.1:c.3368C>G	XP_011515683.1:p.Ala1123Gly
XM_011517382.1:c.3272C>G	XP_011515684.1:p.Ala1091Gly
XM_011517383.1:c.3266C>G	XP_011515685.1:p.Ala1089Gly
XM_011517384.1:c.3191C>G	XP_011515686.1:p.Ala1064Gly
XM_011517385.1:c.2327C>G	XP_011515687.1:p.Ala776Gly
XR_928366.1:n.3353-126C>G
XR_928367.1:n.3444C>G
XR_928368.1:n.3337C>G
XM_011517384.3:c.3191C>G	XP_011515686.1:p.Ala1064Gly
XM_017013991.2:c.3554C>G	XP_016869480.1:p.Ala1185Gly
XM_017013992.2:c.3479C>G	XP_016869481.1:p.Ala1160Gly
XM_017013993.2:c.3464C>G	XP_016869482.1:p.Ala1155Gly
XM_017013994.2:c.3458C>G	XP_016869483.1:p.Ala1153Gly
XM_017013995.2:c.3389C>G	XP_016869484.1:p.Ala1130Gly
XM_017013996.2:c.3554C>G	XP_016869485.1:p.Ala1185Gly
XM_017013997.2:c.3356C>G	XP_016869486.1:p.Ala1119Gly
XM_017013998.1:c.3479C>G	XP_016869487.1:p.Ala1160Gly
XM_017013999.2:c.3266C>G	XP_016869488.1:p.Ala1089Gly
XM_017014000.1:c.2417C>G	XP_016869489.1:p.Ala806Gly
XM_017014001.2:c.2327C>G	XP_016869490.1:p.Ala776Gly
XR_001745626.2:n.3439-126C>G
XR_001745627.2:n.3530C>G
XR_001745628.2:n.3421C>G
XR_001745629.2:n.3284C>G
XR_001745630.2:n.3086C>G
NM_004260.4:c.3389C>G MANE Select	NP_004251.4:p.Ala1130Gly