Canonical Allele Identifier: CA10643575

Gene: SLX4

Linked Data

• ClinVar Variation Id: 319134
• ClinVar RCV Id: RCV000292888
• dbSNP Id: rs146163310
• gnomAD v2: 16-3631788-G-A
• gnomAD v3: 16-3581787-G-A
• gnomAD v4: 16-3581787-G-A
• MyVariant Identifiers: chr16:g.3631788G>A (hg19) ; chr16:g.3581787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3581787G>A , CM000678.2:g.3581787G>A	GRCh38
NC_000016.9:g.3631788G>A , CM000678.1:g.3631788G>A	GRCh37
NC_000016.8:g.3571789G>A	NCBI36
NG_028123.1:g.34798C>T , LRG_503:g.34798C>T
NG_033123.1:g.605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294008.4:c.*555C>T MANE Select	ENSP00000294008.3:n.*555C>T
ENST00000294008.3:c.*555C>T	ENSP00000294008.3:n.*555C>T
NM_032444.2:c.*555C>T , LRG_503t1:c.*555C>T	NP_115820.2:n.*555C>T
XM_011522715.1:c.*555C>T	XP_011521017.1:n.*555C>T
NM_032444.3:c.*555C>T	NP_115820.2:n.*555C>T
XM_011522715.3:c.*555C>T	XP_011521017.1:n.*555C>T
XM_017023775.2:c.*555C>T	XP_016879264.1:n.*555C>T
XM_024450471.1:c.*555C>T	XP_024306239.1:n.*555C>T
NM_032444.4:c.*555C>T MANE Select	NP_115820.2:n.*555C>T