Canonical Allele Identifier: CA187690775

Gene: RECQL4

Linked Data

• dbSNP Id: rs960219798
• gnomAD v4: 8-144517342-G-A
• MyVariant Identifiers: chr8:g.145742726G>A (hg19) ; chr8:g.144517342G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517342G>A , CM000670.2:g.144517342G>A	GRCh38
NC_000008.10:g.145742726G>A , CM000670.1:g.145742726G>A	GRCh37
NC_000008.9:g.145713534G>A	NCBI36
NG_016430.1:g.5485C>T
NG_033083.1:g.4378G>A
NG_016430.2:g.5485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.213+72C>T MANE Select	ENSP00000482313.2:n.213+72C>T
ENST00000524998.1:c.86+72C>T
ENST00000534270.1:n.159+72C>T
ENST00000534538.1:c.167+72C>T
ENST00000617875.4:c.213+72C>T	ENSP00000482313.1:n.213+72C>T
ENST00000621189.4:c.-859+72C>T	ENSP00000483145.1:n.-859+72C>T
NM_004260.3:c.213+72C>T	NP_004251.3:n.213+72C>T
XM_011517380.1:c.213+72C>T	XP_011515682.1:n.213+72C>T
XM_011517381.1:c.213+72C>T	XP_011515683.1:n.213+72C>T
XM_011517382.1:c.213+72C>T	XP_011515684.1:n.213+72C>T
XM_011517383.1:c.213+72C>T	XP_011515685.1:n.213+72C>T
XM_011517384.1:c.213+72C>T	XP_011515686.1:n.213+72C>T
XR_928366.1:n.254+72C>T
XR_928367.1:n.254+72C>T
XR_928368.1:n.256+72C>T
XM_011517384.3:c.213+72C>T	XP_011515686.1:n.213+72C>T
XM_017013991.2:c.213+72C>T	XP_016869480.1:n.213+72C>T
XM_017013992.2:c.213+72C>T	XP_016869481.1:n.213+72C>T
XM_017013993.2:c.213+72C>T	XP_016869482.1:n.213+72C>T
XM_017013994.2:c.213+72C>T	XP_016869483.1:n.213+72C>T
XM_017013995.2:c.213+72C>T	XP_016869484.1:n.213+72C>T
XM_017013996.2:c.213+72C>T	XP_016869485.1:n.213+72C>T
XM_017013997.2:c.213+72C>T	XP_016869486.1:n.213+72C>T
XM_017013998.1:c.213+72C>T	XP_016869487.1:n.213+72C>T
XM_017013999.2:c.213+72C>T	XP_016869488.1:n.213+72C>T
XM_017014001.2:c.-921+72C>T	XP_016869490.1:n.-921+72C>T
XR_001745626.2:n.250+72C>T
XR_001745627.2:n.250+72C>T
XR_001745628.2:n.250+72C>T
XR_001745629.2:n.250+72C>T
XR_001745630.2:n.250+72C>T
NM_004260.4:c.213+72C>T MANE Select	NP_004251.4:n.213+72C>T