Canonical Allele Identifier: CA263840

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 56376
• ClinVar RCV Id: RCV002307385
• dbSNP Id: rs386833823
• gnomAD v3: 14-22778850-G-A
• gnomAD v4: 14-22778850-G-A
• MyVariant Identifiers: chr14:g.23248059G>A (hg19) ; chr14:g.22778850G>A (hg38)
• PubMed: PMID:12402335

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22778850G>A , CM000676.2:g.22778850G>A	GRCh38
NC_000014.8:g.23248059G>A , CM000676.1:g.23248059G>A	GRCh37
NC_000014.7:g.22317899G>A	NCBI36
NG_012851.2:g.55971C>T , LRG_695:g.55971C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555911.2:c.713C>T	ENSP00000452551.2:p.Ser238Phe
ENST00000698939.1:c.713C>T	ENSP00000514047.1:p.Ser238Phe
ENST00000397532.9:c.713C>T	ENSP00000380666.4:p.Ser238Phe
ENST00000674313.1:c.713C>T MANE Select	ENSP00000501493.1:p.Ser238Phe
ENST00000285850.11:c.713C>T	ENSP00000285850.7:p.Ser238Phe
ENST00000397528.8:c.713C>T	ENSP00000380662.4:p.Ser238Phe
ENST00000397529.6:c.713C>T	ENSP00000380663.2:p.Ser238Phe
ENST00000397532.7:c.713C>T	ENSP00000380666.3:p.Ser238Phe
ENST00000554061.5:n.384C>T
ENST00000554517.5:c.-86C>T	ENSP00000452083.1:n.-86C>T
ENST00000555702.5:c.713C>T	ENSP00000451881.1:p.Ser238Phe
ENST00000556287.5:c.713C>T	ENSP00000450715.1:p.Ser238Phe
NM_001126105.2:c.713C>T , LRG_695t1:c.713C>T	NP_001119577.1:p.Ser238Phe
NM_001126106.2:c.713C>T , LRG_695t2:c.713C>T	NP_001119578.1:p.Ser238Phe
NR_040448.1:n.1328C>T
XM_006720302.1:c.713C>T	XP_006720365.1:p.Ser238Phe
XM_011537298.1:c.713C>T	XP_011535600.1:p.Ser238Phe
XM_011537299.1:c.713C>T	XP_011535601.1:p.Ser238Phe
XM_006720302.2:c.713C>T	XP_006720365.1:p.Ser238Phe
XM_011537298.3:c.713C>T	XP_011535600.1:p.Ser238Phe
NM_001126105.3:c.713C>T	NP_001119577.1:p.Ser238Phe
NM_001126106.4:c.713C>T	NP_001119578.1:p.Ser238Phe
NM_003982.4:c.713C>T MANE Select	NP_003973.3:p.Ser238Phe