Canonical Allele Identifier: CA372668031

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 459473
• ClinVar RCV Id: RCV000533258
• dbSNP Id: rs1418891842
• gnomAD v2: 8-145737308-G-A
• gnomAD v4: 8-144511925-G-A
• MyVariant Identifiers: chr8:g.145737308G>A (hg19) ; chr8:g.144511925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511925G>A , CM000670.2:g.144511925G>A	GRCh38
NC_000008.10:g.145737308G>A , CM000670.1:g.145737308G>A	GRCh37
NC_000008.9:g.145708116G>A	NCBI36
NG_016430.1:g.10902C>T
NG_016430.2:g.10902C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.3379C>T MANE Select	ENSP00000482313.2:p.Pro1127Ser
ENST00000301323.7:c.396C>T
ENST00000529424.2:n.50-136C>T
ENST00000531875.2:c.625C>T	ENSP00000477910.1:p.Pro209Ser
ENST00000617875.4:c.3379C>T	ENSP00000482313.1:p.Pro1127Ser
ENST00000621189.4:c.2308C>T	ENSP00000483145.1:p.Pro770Ser
NM_004260.3:c.3379C>T	NP_004251.3:p.Pro1127Ser
XM_011517380.1:c.3454C>T	XP_011515682.1:p.Pro1152Ser
XM_011517381.1:c.3358C>T	XP_011515683.1:p.Pro1120Ser
XM_011517382.1:c.3262C>T	XP_011515684.1:p.Pro1088Ser
XM_011517383.1:c.3256C>T	XP_011515685.1:p.Pro1086Ser
XM_011517384.1:c.3181C>T	XP_011515686.1:p.Pro1061Ser
XM_011517385.1:c.2317C>T	XP_011515687.1:p.Pro773Ser
XR_928366.1:n.3353-136C>T
XR_928367.1:n.3434C>T
XR_928368.1:n.3327C>T
XM_011517384.3:c.3181C>T	XP_011515686.1:p.Pro1061Ser
XM_017013991.2:c.3544C>T	XP_016869480.1:p.Pro1182Ser
XM_017013992.2:c.3469C>T	XP_016869481.1:p.Pro1157Ser
XM_017013993.2:c.3454C>T	XP_016869482.1:p.Pro1152Ser
XM_017013994.2:c.3448C>T	XP_016869483.1:p.Pro1150Ser
XM_017013995.2:c.3379C>T	XP_016869484.1:p.Pro1127Ser
XM_017013996.2:c.3544C>T	XP_016869485.1:p.Pro1182Ser
XM_017013997.2:c.3346C>T	XP_016869486.1:p.Pro1116Ser
XM_017013998.1:c.3469C>T	XP_016869487.1:p.Pro1157Ser
XM_017013999.2:c.3256C>T	XP_016869488.1:p.Pro1086Ser
XM_017014000.1:c.2407C>T	XP_016869489.1:p.Pro803Ser
XM_017014001.2:c.2317C>T	XP_016869490.1:p.Pro773Ser
XR_001745626.2:n.3439-136C>T
XR_001745627.2:n.3520C>T
XR_001745628.2:n.3411C>T
XR_001745629.2:n.3274C>T
XR_001745630.2:n.3076C>T
NM_004260.4:c.3379C>T MANE Select	NP_004251.4:p.Pro1127Ser