Canonical Allele Identifier: CA372684740

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2141447
• ClinVar RCV Id: RCV003060368
• dbSNP Id: rs2130705887
• MyVariant Identifiers: chr8:g.145740570G>C (hg19) ; chr8:g.144515186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515186G>C , CM000670.2:g.144515186G>C	GRCh38
NC_000008.10:g.145740570G>C , CM000670.1:g.145740570G>C	GRCh37
NC_000008.9:g.145711378G>C	NCBI36
NG_016430.1:g.7641C>G
NG_033083.1:g.2222G>C
NG_016430.2:g.7641C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000688394.1:n.470C>G
ENST00000617875.6:c.1447C>G MANE Select	ENSP00000482313.2:p.Pro483Ala
ENST00000532846.2:c.332C>G
ENST00000617875.4:c.1447C>G	ENSP00000482313.1:p.Pro483Ala
ENST00000621189.4:c.376C>G	ENSP00000483145.1:p.Pro126Ala
NM_004260.3:c.1447C>G	NP_004251.3:p.Pro483Ala
XM_011517380.1:c.1447C>G	XP_011515682.1:p.Pro483Ala
XM_011517381.1:c.1351C>G	XP_011515683.1:p.Pro451Ala
XM_011517382.1:c.1447C>G	XP_011515684.1:p.Pro483Ala
XM_011517383.1:c.1447C>G	XP_011515685.1:p.Pro483Ala
XM_011517384.1:c.1447C>G	XP_011515686.1:p.Pro483Ala
XM_011517385.1:c.310C>G	XP_011515687.1:p.Pro104Ala
XR_928366.1:n.1488C>G
XR_928367.1:n.1488C>G
XR_928368.1:n.1490C>G
XM_011517384.3:c.1447C>G	XP_011515686.1:p.Pro483Ala
XM_017013991.2:c.1447C>G	XP_016869480.1:p.Pro483Ala
XM_017013992.2:c.1447C>G	XP_016869481.1:p.Pro483Ala
XM_017013993.2:c.1447C>G	XP_016869482.1:p.Pro483Ala
XM_017013994.2:c.1351C>G	XP_016869483.1:p.Pro451Ala
XM_017013995.2:c.1447C>G	XP_016869484.1:p.Pro483Ala
XM_017013996.2:c.1447C>G	XP_016869485.1:p.Pro483Ala
XM_017013997.2:c.1447C>G	XP_016869486.1:p.Pro483Ala
XM_017013998.1:c.1447C>G	XP_016869487.1:p.Pro483Ala
XM_017013999.2:c.1447C>G	XP_016869488.1:p.Pro483Ala
XM_017014000.1:c.310C>G	XP_016869489.1:p.Pro104Ala
XM_017014001.2:c.310C>G	XP_016869490.1:p.Pro104Ala
XR_001745626.2:n.1484C>G
XR_001745627.2:n.1484C>G
XR_001745628.2:n.1484C>G
XR_001745629.2:n.1484C>G
XR_001745630.2:n.1484C>G
NM_004260.4:c.1447C>G MANE Select	NP_004251.4:p.Pro483Ala