Canonical Allele Identifier: CA4947770

Gene: RECQL4

Linked Data

• dbSNP Id: rs751838450
• ExAC: 8:145737209 C / A
• gnomAD v2: 8-145737209-C-A
• gnomAD v3: 8-144511826-C-A
• gnomAD v4: 8-144511826-C-A
• MyVariant Identifiers: chr8:g.145737209C>A (hg19) ; chr8:g.144511826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511826C>A , CM000670.2:g.144511826C>A	GRCh38
NC_000008.10:g.145737209C>A , CM000670.1:g.145737209C>A	GRCh37
NC_000008.9:g.145708017C>A	NCBI36
NG_016430.1:g.11001G>T
NG_016430.2:g.11001G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3394-37G>T MANE Select	ENSP00000482313.2:n.3394-37G>T
ENST00000301323.7:c.411-37G>T
ENST00000529424.2:n.50-37G>T
ENST00000531875.2:c.649-37G>T	ENSP00000477910.1:n.649-37G>T
ENST00000617875.4:c.3394-37G>T	ENSP00000482313.1:n.3394-37G>T
ENST00000621189.4:c.2323-37G>T	ENSP00000483145.1:n.2323-37G>T
NM_004260.3:c.3394-37G>T	NP_004251.3:n.3394-37G>T
XM_011517380.1:c.3469-37G>T	XP_011515682.1:n.3469-37G>T
XM_011517381.1:c.3373-37G>T	XP_011515683.1:n.3373-37G>T
XM_011517382.1:c.3277-37G>T	XP_011515684.1:n.3277-37G>T
XM_011517383.1:c.3271-37G>T	XP_011515685.1:n.3271-37G>T
XM_011517384.1:c.3196-37G>T	XP_011515686.1:n.3196-37G>T
XM_011517385.1:c.2332-37G>T	XP_011515687.1:n.2332-37G>T
XR_928366.1:n.3353-37G>T
XR_928367.1:n.3449-37G>T
XR_928368.1:n.3342-37G>T
XM_011517384.3:c.3196-37G>T	XP_011515686.1:n.3196-37G>T
XM_017013991.2:c.3643G>T	XP_016869480.1:p.Gly1215Ter
XM_017013992.2:c.3568G>T	XP_016869481.1:p.Gly1190Ter
XM_017013993.2:c.3553G>T	XP_016869482.1:p.Gly1185Ter
XM_017013994.2:c.3547G>T	XP_016869483.1:p.Gly1183Ter
XM_017013995.2:c.3478G>T	XP_016869484.1:p.Gly1160Ter
XM_017013996.2:c.3559-37G>T	XP_016869485.1:n.3559-37G>T
XM_017013997.2:c.3445G>T	XP_016869486.1:p.Gly1149Ter
XM_017013998.1:c.3484-37G>T	XP_016869487.1:n.3484-37G>T
XM_017013999.2:c.3355G>T	XP_016869488.1:p.Gly1119Ter
XM_017014000.1:c.2506G>T	XP_016869489.1:p.Gly836Ter
XM_017014001.2:c.2416G>T	XP_016869490.1:p.Gly806Ter
XR_001745626.2:n.3439-37G>T
XR_001745627.2:n.3535-37G>T
XR_001745628.2:n.3426-37G>T
XR_001745629.2:n.3289-37G>T
XR_001745630.2:n.3091-37G>T
NM_004260.4:c.3394-37G>T MANE Select	NP_004251.4:n.3394-37G>T