Canonical Allele Identifier: CA2123133292

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 1645470
• ClinVar RCV Id: RCV002148538
• dbSNP Id: rs1594944509
• gnomAD v4: 14-22775556-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22775556T>C , CM000676.2:g.22775556T>C	GRCh38
NC_000014.8:g.23244765T>C , CM000676.1:g.23244765T>C	GRCh37
NC_000014.7:g.22314605T>C	NCBI36
NG_012851.2:g.59265A>G , LRG_695:g.59265A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000555911.2:c.999-16A>G	ENSP00000452551.2:n.999-16A>G
ENST00000698939.1:c.*65-16A>G	ENSP00000514047.1:n.*65-16A>G
ENST00000698940.1:n.61-16A>G
ENST00000397532.9:c.999-16A>G	ENSP00000380666.4:n.999-16A>G
ENST00000674313.1:c.999-16A>G MANE Select	ENSP00000501493.1:n.999-16A>G
ENST00000285850.11:c.999-16A>G	ENSP00000285850.7:n.999-16A>G
ENST00000397528.8:c.999-16A>G	ENSP00000380662.4:n.999-16A>G
ENST00000397529.6:c.999-16A>G	ENSP00000380663.2:n.999-16A>G
ENST00000397532.7:c.999-16A>G	ENSP00000380666.3:n.999-16A>G
ENST00000554061.5:n.670-16A>G
ENST00000554517.5:c.201-16A>G	ENSP00000452083.1:n.201-16A>G
ENST00000555678.1:n.244A>G
ENST00000555702.5:c.999-16A>G	ENSP00000451881.1:n.999-16A>G
ENST00000556287.5:c.895-16A>G	ENSP00000450715.1:n.895-16A>G
ENST00000556350.1:c.143-16A>G
NM_001126105.2:c.999-16A>G , LRG_695t1:c.999-16A>G	NP_001119577.1:n.999-16A>G
NM_001126106.2:c.999-16A>G , LRG_695t2:c.999-16A>G	NP_001119578.1:n.999-16A>G
NR_040448.1:n.1614-16A>G
XM_006720302.1:c.999-16A>G	XP_006720365.1:n.999-16A>G
XM_011537298.1:c.999-16A>G	XP_011535600.1:n.999-16A>G
XM_011537299.1:c.999-16A>G	XP_011535601.1:n.999-16A>G
XM_006720302.2:c.999-16A>G	XP_006720365.1:n.999-16A>G
XM_011537298.3:c.999-16A>G	XP_011535600.1:n.999-16A>G
NM_001126105.3:c.999-16A>G	NP_001119577.1:n.999-16A>G
NM_001126106.4:c.999-16A>G	NP_001119578.1:n.999-16A>G
NM_003982.4:c.999-16A>G MANE Select	NP_003973.3:n.999-16A>G