Canonical Allele Identifier: CA372691804

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2579698
• ClinVar RCV Id: RCV003328144
• MyVariant Identifiers: chr8:g.145742149C>G (hg19) ; chr8:g.144516765C>G (hg38)
• MutSpliceDB: CA372691804

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516765C>G , CM000670.2:g.144516765C>G	GRCh38
NC_000008.10:g.145742149C>G , CM000670.1:g.145742149C>G	GRCh37
NC_000008.9:g.145712957C>G	NCBI36
NG_016430.1:g.6062G>C
NG_033083.1:g.3801C>G
NG_016430.2:g.6062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.355-1G>C MANE Select	ENSP00000482313.2:n.355-1G>C
ENST00000524998.1:c.227+285G>C
ENST00000534538.1:c.309-104G>C
ENST00000617875.4:c.355-1G>C	ENSP00000482313.1:n.355-1G>C
ENST00000621189.4:c.-717-1G>C	ENSP00000483145.1:n.-717-1G>C
NM_004260.3:c.355-1G>C	NP_004251.3:n.355-1G>C
XM_011517380.1:c.355-1G>C	XP_011515682.1:n.355-1G>C
XM_011517381.1:c.355-1G>C	XP_011515683.1:n.355-1G>C
XM_011517382.1:c.355-1G>C	XP_011515684.1:n.355-1G>C
XM_011517383.1:c.355-1G>C	XP_011515685.1:n.355-1G>C
XM_011517384.1:c.355-1G>C	XP_011515686.1:n.355-1G>C
XR_928366.1:n.396-1G>C
XR_928367.1:n.396-1G>C
XR_928368.1:n.398-1G>C
XM_011517384.3:c.355-1G>C	XP_011515686.1:n.355-1G>C
XM_017013991.2:c.355-1G>C	XP_016869480.1:n.355-1G>C
XM_017013992.2:c.355-1G>C	XP_016869481.1:n.355-1G>C
XM_017013993.2:c.355-1G>C	XP_016869482.1:n.355-1G>C
XM_017013994.2:c.355-1G>C	XP_016869483.1:n.355-1G>C
XM_017013995.2:c.355-1G>C	XP_016869484.1:n.355-1G>C
XM_017013996.2:c.355-1G>C	XP_016869485.1:n.355-1G>C
XM_017013997.2:c.355-1G>C	XP_016869486.1:n.355-1G>C
XM_017013998.1:c.355-1G>C	XP_016869487.1:n.355-1G>C
XM_017013999.2:c.355-1G>C	XP_016869488.1:n.355-1G>C
XM_017014001.2:c.-779-1G>C	XP_016869490.1:n.-779-1G>C
XR_001745626.2:n.392-1G>C
XR_001745627.2:n.392-1G>C
XR_001745628.2:n.392-1G>C
XR_001745629.2:n.392-1G>C
XR_001745630.2:n.392-1G>C
NM_004260.4:c.355-1G>C MANE Select	NP_004251.4:n.355-1G>C