Canonical Allele Identifier: CA263790

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 56359
• ClinVar RCV Id: RCV000049772 ; RCV003324723
• dbSNP Id: rs386833807
• ExAC: 14:23243169 G / A
• gnomAD v2: 14-23243169-G-A
• gnomAD v3: 14-22773960-G-A
• gnomAD v4: 14-22773960-G-A
• COSMIC: COSM6001101
• MyVariant Identifiers: chr14:g.23243169G>A (hg19) ; chr14:g.22773960G>A (hg38)
• PubMed: PMID:18716612

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22773960G>A , CM000676.2:g.22773960G>A	GRCh38
NC_000014.8:g.23243169G>A , CM000676.1:g.23243169G>A	GRCh37
NC_000014.7:g.22313009G>A	NCBI36
NG_012851.2:g.60861C>T , LRG_695:g.60861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.1402C>T	ENSP00000452551.2:p.Arg468Ter
ENST00000698939.1:c.*468C>T	ENSP00000514047.1:n.*468C>T
ENST00000397532.9:c.1402C>T	ENSP00000380666.4:p.Arg468Ter
ENST00000674313.1:c.1402C>T MANE Select	ENSP00000501493.1:p.Arg468Ter
ENST00000285850.11:c.1402C>T	ENSP00000285850.7:p.Arg468Ter
ENST00000397528.8:c.1402C>T	ENSP00000380662.4:p.Arg468Ter
ENST00000397529.6:c.1402C>T	ENSP00000380663.2:p.Arg468Ter
ENST00000397532.7:c.1402C>T	ENSP00000380666.3:p.Arg468Ter
ENST00000554061.5:n.1073C>T
ENST00000554517.5:c.604C>T	ENSP00000452083.1:p.Arg202Ter
ENST00000555678.1:n.663C>T
ENST00000555702.5:c.1402C>T	ENSP00000451881.1:p.Arg468Ter
ENST00000556287.5:c.*365C>T	ENSP00000450715.1:n.*365C>T
ENST00000556350.1:c.396C>T
NM_001126105.2:c.1402C>T , LRG_695t1:c.1402C>T	NP_001119577.1:p.Arg468Ter
NM_001126106.2:c.1402C>T , LRG_695t2:c.1402C>T	NP_001119578.1:p.Arg468Ter
NR_040448.1:n.2017C>T
XM_006720302.1:c.1402C>T	XP_006720365.1:p.Arg468Ter
XM_011537298.1:c.1402C>T	XP_011535600.1:p.Arg468Ter
XM_011537299.1:c.1402C>T	XP_011535601.1:p.Arg468Ter
XM_006720302.2:c.1402C>T	XP_006720365.1:p.Arg468Ter
XM_011537298.3:c.1402C>T	XP_011535600.1:p.Arg468Ter
NM_001126105.3:c.1402C>T	NP_001119577.1:p.Arg468Ter
NM_001126106.4:c.1402C>T	NP_001119578.1:p.Arg468Ter
NM_003982.4:c.1402C>T MANE Select	NP_003973.3:p.Arg468Ter