Canonical Allele Identifier: CA187678978

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2983057
• ClinVar RCV Id: RCV003847672
• dbSNP Id: rs376559433
• gnomAD v3: 8-144511920-C-T
• gnomAD v4: 8-144511920-C-T
• MyVariant Identifiers: chr8:g.145737303C>T (hg19) ; chr8:g.144511920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511920C>T , CM000670.2:g.144511920C>T	GRCh38
NC_000008.10:g.145737303C>T , CM000670.1:g.145737303C>T	GRCh37
NC_000008.9:g.145708111C>T	NCBI36
NG_016430.1:g.10907G>A
NG_016430.2:g.10907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3384G>A MANE Select	ENSP00000482313.2:p.Gly1128=
ENST00000301323.7:c.401G>A
ENST00000529424.2:n.50-131G>A
ENST00000531875.2:c.630G>A	ENSP00000477910.1:p.Gly210=
ENST00000617875.4:c.3384G>A	ENSP00000482313.1:p.Gly1128=
ENST00000621189.4:c.2313G>A	ENSP00000483145.1:p.Gly771=
NM_004260.3:c.3384G>A	NP_004251.3:p.Gly1128=
XM_011517380.1:c.3459G>A	XP_011515682.1:p.Gly1153=
XM_011517381.1:c.3363G>A	XP_011515683.1:p.Gly1121=
XM_011517382.1:c.3267G>A	XP_011515684.1:p.Gly1089=
XM_011517383.1:c.3261G>A	XP_011515685.1:p.Gly1087=
XM_011517384.1:c.3186G>A	XP_011515686.1:p.Gly1062=
XM_011517385.1:c.2322G>A	XP_011515687.1:p.Gly774=
XR_928366.1:n.3353-131G>A
XR_928367.1:n.3439G>A
XR_928368.1:n.3332G>A
XM_011517384.3:c.3186G>A	XP_011515686.1:p.Gly1062=
XM_017013991.2:c.3549G>A	XP_016869480.1:p.Gly1183=
XM_017013992.2:c.3474G>A	XP_016869481.1:p.Gly1158=
XM_017013993.2:c.3459G>A	XP_016869482.1:p.Gly1153=
XM_017013994.2:c.3453G>A	XP_016869483.1:p.Gly1151=
XM_017013995.2:c.3384G>A	XP_016869484.1:p.Gly1128=
XM_017013996.2:c.3549G>A	XP_016869485.1:p.Gly1183=
XM_017013997.2:c.3351G>A	XP_016869486.1:p.Gly1117=
XM_017013998.1:c.3474G>A	XP_016869487.1:p.Gly1158=
XM_017013999.2:c.3261G>A	XP_016869488.1:p.Gly1087=
XM_017014000.1:c.2412G>A	XP_016869489.1:p.Gly804=
XM_017014001.2:c.2322G>A	XP_016869490.1:p.Gly774=
XR_001745626.2:n.3439-131G>A
XR_001745627.2:n.3525G>A
XR_001745628.2:n.3416G>A
XR_001745629.2:n.3279G>A
XR_001745630.2:n.3081G>A
NM_004260.4:c.3384G>A MANE Select	NP_004251.4:p.Gly1128=