Canonical Allele Identifier: CA372668019

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511924-G-T
• MyVariant Identifiers: chr8:g.145737307G>T (hg19) ; chr8:g.144511924G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511924G>T , CM000670.2:g.144511924G>T	GRCh38
NC_000008.10:g.145737307G>T , CM000670.1:g.145737307G>T	GRCh37
NC_000008.9:g.145708115G>T	NCBI36
NG_016430.1:g.10903C>A
NG_016430.2:g.10903C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3380C>A MANE Select	ENSP00000482313.2:p.Pro1127Gln
ENST00000301323.7:c.397C>A
ENST00000529424.2:n.50-135C>A
ENST00000531875.2:c.626C>A	ENSP00000477910.1:p.Pro209Gln
ENST00000617875.4:c.3380C>A	ENSP00000482313.1:p.Pro1127Gln
ENST00000621189.4:c.2309C>A	ENSP00000483145.1:p.Pro770Gln
NM_004260.3:c.3380C>A	NP_004251.3:p.Pro1127Gln
XM_011517380.1:c.3455C>A	XP_011515682.1:p.Pro1152Gln
XM_011517381.1:c.3359C>A	XP_011515683.1:p.Pro1120Gln
XM_011517382.1:c.3263C>A	XP_011515684.1:p.Pro1088Gln
XM_011517383.1:c.3257C>A	XP_011515685.1:p.Pro1086Gln
XM_011517384.1:c.3182C>A	XP_011515686.1:p.Pro1061Gln
XM_011517385.1:c.2318C>A	XP_011515687.1:p.Pro773Gln
XR_928366.1:n.3353-135C>A
XR_928367.1:n.3435C>A
XR_928368.1:n.3328C>A
XM_011517384.3:c.3182C>A	XP_011515686.1:p.Pro1061Gln
XM_017013991.2:c.3545C>A	XP_016869480.1:p.Pro1182Gln
XM_017013992.2:c.3470C>A	XP_016869481.1:p.Pro1157Gln
XM_017013993.2:c.3455C>A	XP_016869482.1:p.Pro1152Gln
XM_017013994.2:c.3449C>A	XP_016869483.1:p.Pro1150Gln
XM_017013995.2:c.3380C>A	XP_016869484.1:p.Pro1127Gln
XM_017013996.2:c.3545C>A	XP_016869485.1:p.Pro1182Gln
XM_017013997.2:c.3347C>A	XP_016869486.1:p.Pro1116Gln
XM_017013998.1:c.3470C>A	XP_016869487.1:p.Pro1157Gln
XM_017013999.2:c.3257C>A	XP_016869488.1:p.Pro1086Gln
XM_017014000.1:c.2408C>A	XP_016869489.1:p.Pro803Gln
XM_017014001.2:c.2318C>A	XP_016869490.1:p.Pro773Gln
XR_001745626.2:n.3439-135C>A
XR_001745627.2:n.3521C>A
XR_001745628.2:n.3412C>A
XR_001745629.2:n.3275C>A
XR_001745630.2:n.3077C>A
NM_004260.4:c.3380C>A MANE Select	NP_004251.4:p.Pro1127Gln