Canonical Allele Identifier: CA372667935

Gene: RECQL4

Linked Data

• dbSNP Id: rs2130653917
• gnomAD v4: 8-144511915-G-A
• MyVariant Identifiers: chr8:g.145737298G>A (hg19) ; chr8:g.144511915G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3389C>T MANE Select	ENSP00000482313.2:p.Ala1130Val
ENST00000301323.7:c.406C>T
ENST00000529424.2:n.50-126C>T
ENST00000531875.2:c.635C>T	ENSP00000477910.1:p.Ala212Val
ENST00000617875.4:c.3389C>T	ENSP00000482313.1:p.Ala1130Val
ENST00000621189.4:c.2318C>T	ENSP00000483145.1:p.Ala773Val
NM_004260.3:c.3389C>T	NP_004251.3:p.Ala1130Val
XM_011517380.1:c.3464C>T	XP_011515682.1:p.Ala1155Val
XM_011517381.1:c.3368C>T	XP_011515683.1:p.Ala1123Val
XM_011517382.1:c.3272C>T	XP_011515684.1:p.Ala1091Val
XM_011517383.1:c.3266C>T	XP_011515685.1:p.Ala1089Val
XM_011517384.1:c.3191C>T	XP_011515686.1:p.Ala1064Val
XM_011517385.1:c.2327C>T	XP_011515687.1:p.Ala776Val
XR_928366.1:n.3353-126C>T
XR_928367.1:n.3444C>T
XR_928368.1:n.3337C>T
XM_011517384.3:c.3191C>T	XP_011515686.1:p.Ala1064Val
XM_017013991.2:c.3554C>T	XP_016869480.1:p.Ala1185Val
XM_017013992.2:c.3479C>T	XP_016869481.1:p.Ala1160Val
XM_017013993.2:c.3464C>T	XP_016869482.1:p.Ala1155Val
XM_017013994.2:c.3458C>T	XP_016869483.1:p.Ala1153Val
XM_017013995.2:c.3389C>T	XP_016869484.1:p.Ala1130Val
XM_017013996.2:c.3554C>T	XP_016869485.1:p.Ala1185Val
XM_017013997.2:c.3356C>T	XP_016869486.1:p.Ala1119Val
XM_017013998.1:c.3479C>T	XP_016869487.1:p.Ala1160Val
XM_017013999.2:c.3266C>T	XP_016869488.1:p.Ala1089Val
XM_017014000.1:c.2417C>T	XP_016869489.1:p.Ala806Val
XM_017014001.2:c.2327C>T	XP_016869490.1:p.Ala776Val
XR_001745626.2:n.3439-126C>T
XR_001745627.2:n.3530C>T
XR_001745628.2:n.3421C>T
XR_001745629.2:n.3284C>T
XR_001745630.2:n.3086C>T
NM_004260.4:c.3389C>T MANE Select	NP_004251.4:p.Ala1130Val