Canonical Allele Identifier: CA372669153

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144512038-A-T
• MyVariant Identifiers: chr8:g.145737421A>T (hg19) ; chr8:g.144512038A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512038A>T , CM000670.2:g.144512038A>T	GRCh38
NC_000008.10:g.145737421A>T , CM000670.1:g.145737421A>T	GRCh37
NC_000008.9:g.145708229A>T	NCBI36
NG_016430.1:g.10789T>A
NG_016430.2:g.10789T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3266T>A MANE Select	ENSP00000482313.2:p.Leu1089Gln
ENST00000301323.7:c.283T>A
ENST00000529424.2:n.50-249T>A
ENST00000531875.2:c.512T>A	ENSP00000477910.1:p.Leu171Gln
ENST00000617875.4:c.3266T>A	ENSP00000482313.1:p.Leu1089Gln
ENST00000621189.4:c.2195T>A	ENSP00000483145.1:p.Leu732Gln
NM_004260.3:c.3266T>A	NP_004251.3:p.Leu1089Gln
XM_011517380.1:c.3341T>A	XP_011515682.1:p.Leu1114Gln
XM_011517381.1:c.3245T>A	XP_011515683.1:p.Leu1082Gln
XM_011517382.1:c.3149T>A	XP_011515684.1:p.Leu1050Gln
XM_011517383.1:c.3143T>A	XP_011515685.1:p.Leu1048Gln
XM_011517384.1:c.3068T>A	XP_011515686.1:p.Leu1023Gln
XM_011517385.1:c.2204T>A	XP_011515687.1:p.Leu735Gln
XR_928366.1:n.3352+106T>A
XR_928367.1:n.3321T>A
XR_928368.1:n.3214T>A
XM_011517384.3:c.3068T>A	XP_011515686.1:p.Leu1023Gln
XM_017013991.2:c.3431T>A	XP_016869480.1:p.Leu1144Gln
XM_017013992.2:c.3356T>A	XP_016869481.1:p.Leu1119Gln
XM_017013993.2:c.3341T>A	XP_016869482.1:p.Leu1114Gln
XM_017013994.2:c.3335T>A	XP_016869483.1:p.Leu1112Gln
XM_017013995.2:c.3266T>A	XP_016869484.1:p.Leu1089Gln
XM_017013996.2:c.3431T>A	XP_016869485.1:p.Leu1144Gln
XM_017013997.2:c.3233T>A	XP_016869486.1:p.Leu1078Gln
XM_017013998.1:c.3356T>A	XP_016869487.1:p.Leu1119Gln
XM_017013999.2:c.3143T>A	XP_016869488.1:p.Leu1048Gln
XM_017014000.1:c.2294T>A	XP_016869489.1:p.Leu765Gln
XM_017014001.2:c.2204T>A	XP_016869490.1:p.Leu735Gln
XR_001745626.2:n.3438+106T>A
XR_001745627.2:n.3407T>A
XR_001745628.2:n.3298T>A
XR_001745629.2:n.3161T>A
XR_001745630.2:n.2963T>A
NM_004260.4:c.3266T>A MANE Select	NP_004251.4:p.Leu1089Gln