Canonical Allele Identifier: CA7104508

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 426739
• ClinVar RCV Id: RCV002263700
• dbSNP Id: rs146720775
• ExAC: 14:23244749 C / T
• gnomAD v2: 14-23244749-C-T
• gnomAD v3: 14-22775540-C-T
• gnomAD v4: 14-22775540-C-T
• MyVariant Identifiers: chr14:g.23244749C>T (hg19) ; chr14:g.22775540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22775540C>T , CM000676.2:g.22775540C>T	GRCh38
NC_000014.8:g.23244749C>T , CM000676.1:g.23244749C>T	GRCh37
NC_000014.7:g.22314589C>T	NCBI36
NG_012851.2:g.59281G>A , LRG_695:g.59281G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555911.2:c.999G>A	ENSP00000452551.2:p.Arg333=
ENST00000698939.1:c.*65G>A	ENSP00000514047.1:n.*65G>A
ENST00000698940.1:n.61G>A
ENST00000397532.9:c.999G>A	ENSP00000380666.4:p.Arg333=
ENST00000674313.1:c.999G>A MANE Select	ENSP00000501493.1:p.Arg333=
ENST00000285850.11:c.999G>A	ENSP00000285850.7:p.Arg333=
ENST00000397528.8:c.999G>A	ENSP00000380662.4:p.Arg333=
ENST00000397529.6:c.999G>A	ENSP00000380663.2:p.Arg333=
ENST00000397532.7:c.999G>A	ENSP00000380666.3:p.Arg333=
ENST00000554061.5:n.670G>A
ENST00000554517.5:c.201G>A	ENSP00000452083.1:p.Arg67=
ENST00000555678.1:n.260G>A
ENST00000555702.5:c.999G>A	ENSP00000451881.1:p.Arg333=
ENST00000556287.5:c.895G>A	ENSP00000450715.1:p.Ala299Thr
ENST00000556350.1:c.143G>A
NM_001126105.2:c.999G>A , LRG_695t1:c.999G>A	NP_001119577.1:p.Arg333=
NM_001126106.2:c.999G>A , LRG_695t2:c.999G>A	NP_001119578.1:p.Arg333=
NR_040448.1:n.1614G>A
XM_006720302.1:c.999G>A	XP_006720365.1:p.Arg333=
XM_011537298.1:c.999G>A	XP_011535600.1:p.Arg333=
XM_011537299.1:c.999G>A	XP_011535601.1:p.Arg333=
XM_006720302.2:c.999G>A	XP_006720365.1:p.Arg333=
XM_011537298.3:c.999G>A	XP_011535600.1:p.Arg333=
NM_001126105.3:c.999G>A	NP_001119577.1:p.Arg333=
NM_001126106.4:c.999G>A	NP_001119578.1:p.Arg333=
NM_003982.4:c.999G>A MANE Select	NP_003973.3:p.Arg333=