Canonical Allele Identifier: CA372669189

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144512044-G-A
• MyVariant Identifiers: chr8:g.145737427G>A (hg19) ; chr8:g.144512044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512044G>A , CM000670.2:g.144512044G>A	GRCh38
NC_000008.10:g.145737427G>A , CM000670.1:g.145737427G>A	GRCh37
NC_000008.9:g.145708235G>A	NCBI36
NG_016430.1:g.10783C>T
NG_016430.2:g.10783C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.3260C>T MANE Select	ENSP00000482313.2:p.Pro1087Leu
ENST00000301323.7:c.277C>T
ENST00000529424.2:n.50-255C>T
ENST00000531875.2:c.506C>T	ENSP00000477910.1:p.Pro169Leu
ENST00000617875.4:c.3260C>T	ENSP00000482313.1:p.Pro1087Leu
ENST00000621189.4:c.2189C>T	ENSP00000483145.1:p.Pro730Leu
NM_004260.3:c.3260C>T	NP_004251.3:p.Pro1087Leu
XM_011517380.1:c.3335C>T	XP_011515682.1:p.Pro1112Leu
XM_011517381.1:c.3239C>T	XP_011515683.1:p.Pro1080Leu
XM_011517382.1:c.3143C>T	XP_011515684.1:p.Pro1048Leu
XM_011517383.1:c.3137C>T	XP_011515685.1:p.Pro1046Leu
XM_011517384.1:c.3062C>T	XP_011515686.1:p.Pro1021Leu
XM_011517385.1:c.2198C>T	XP_011515687.1:p.Pro733Leu
XR_928366.1:n.3352+100C>T
XR_928367.1:n.3315C>T
XR_928368.1:n.3208C>T
XM_011517384.3:c.3062C>T	XP_011515686.1:p.Pro1021Leu
XM_017013991.2:c.3425C>T	XP_016869480.1:p.Pro1142Leu
XM_017013992.2:c.3350C>T	XP_016869481.1:p.Pro1117Leu
XM_017013993.2:c.3335C>T	XP_016869482.1:p.Pro1112Leu
XM_017013994.2:c.3329C>T	XP_016869483.1:p.Pro1110Leu
XM_017013995.2:c.3260C>T	XP_016869484.1:p.Pro1087Leu
XM_017013996.2:c.3425C>T	XP_016869485.1:p.Pro1142Leu
XM_017013997.2:c.3227C>T	XP_016869486.1:p.Pro1076Leu
XM_017013998.1:c.3350C>T	XP_016869487.1:p.Pro1117Leu
XM_017013999.2:c.3137C>T	XP_016869488.1:p.Pro1046Leu
XM_017014000.1:c.2288C>T	XP_016869489.1:p.Pro763Leu
XM_017014001.2:c.2198C>T	XP_016869490.1:p.Pro733Leu
XR_001745626.2:n.3438+100C>T
XR_001745627.2:n.3401C>T
XR_001745628.2:n.3292C>T
XR_001745629.2:n.3155C>T
XR_001745630.2:n.2957C>T
NM_004260.4:c.3260C>T MANE Select	NP_004251.4:p.Pro1087Leu