Canonical Allele Identifier: CA372688233

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144516074-C-G
• MyVariant Identifiers: chr8:g.145741458C>G (hg19) ; chr8:g.144516074C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516074C>G , CM000670.2:g.144516074C>G	GRCh38
NC_000008.10:g.145741458C>G , CM000670.1:g.145741458C>G	GRCh37
NC_000008.9:g.145712266C>G	NCBI36
NG_016430.1:g.6753G>C
NG_033083.1:g.3110C>G
NG_016430.2:g.6753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1045G>C MANE Select	ENSP00000482313.2:p.Asp349His
ENST00000524998.1:c.567G>C
ENST00000617875.4:c.1045G>C	ENSP00000482313.1:p.Asp349His
ENST00000621189.4:c.-27G>C	ENSP00000483145.1:n.-27G>C
NM_004260.3:c.1045G>C	NP_004251.3:p.Asp349His
XM_011517380.1:c.1045G>C	XP_011515682.1:p.Asp349His
XM_011517381.1:c.954-5G>C	XP_011515683.1:n.954-5G>C
XM_011517382.1:c.1045G>C	XP_011515684.1:p.Asp349His
XM_011517383.1:c.1045G>C	XP_011515685.1:p.Asp349His
XM_011517384.1:c.1045G>C	XP_011515686.1:p.Asp349His
XM_011517385.1:c.-89G>C	XP_011515687.1:n.-89G>C
XR_928366.1:n.1086G>C
XR_928367.1:n.1086G>C
XR_928368.1:n.1088G>C
XM_011517384.3:c.1045G>C	XP_011515686.1:p.Asp349His
XM_017013991.2:c.1045G>C	XP_016869480.1:p.Asp349His
XM_017013992.2:c.1045G>C	XP_016869481.1:p.Asp349His
XM_017013993.2:c.1045G>C	XP_016869482.1:p.Asp349His
XM_017013994.2:c.954-5G>C	XP_016869483.1:n.954-5G>C
XM_017013995.2:c.1045G>C	XP_016869484.1:p.Asp349His
XM_017013996.2:c.1045G>C	XP_016869485.1:p.Asp349His
XM_017013997.2:c.1045G>C	XP_016869486.1:p.Asp349His
XM_017013998.1:c.1045G>C	XP_016869487.1:p.Asp349His
XM_017013999.2:c.1045G>C	XP_016869488.1:p.Asp349His
XM_017014000.1:c.-89G>C	XP_016869489.1:n.-89G>C
XM_017014001.2:c.-89G>C	XP_016869490.1:n.-89G>C
XR_001745626.2:n.1082G>C
XR_001745627.2:n.1082G>C
XR_001745628.2:n.1082G>C
XR_001745629.2:n.1082G>C
XR_001745630.2:n.1082G>C
NM_004260.4:c.1045G>C MANE Select	NP_004251.4:p.Asp349His