Canonical Allele Identifier: CA263815

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 56367
• ClinVar RCV Id: RCV000049780
• dbSNP Id: rs386833815
• ExAC: 14:23282190 C / G
• gnomAD v2: 14-23282190-C-G
• gnomAD v4: 14-22812981-C-G
• MyVariant Identifiers: chr14:g.23282190C>G (hg19) ; chr14:g.22812981C>G (hg38)
• PubMed: PMID:17764084

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22812981C>G , CM000676.2:g.22812981C>G	GRCh38
NC_000014.8:g.23282190C>G , CM000676.1:g.23282190C>G	GRCh37
NC_000014.7:g.22352030C>G	NCBI36
NG_012851.2:g.21840G>C , LRG_695:g.21840G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.418G>C	ENSP00000452551.2:p.Ala140Pro
ENST00000698939.1:c.418G>C	ENSP00000514047.1:p.Ala140Pro
ENST00000397532.9:c.418G>C	ENSP00000380666.4:p.Ala140Pro
ENST00000674313.1:c.418G>C MANE Select	ENSP00000501493.1:p.Ala140Pro
ENST00000285850.11:c.418G>C	ENSP00000285850.7:p.Ala140Pro
ENST00000397528.8:c.418G>C	ENSP00000380662.4:p.Ala140Pro
ENST00000397529.6:c.418G>C	ENSP00000380663.2:p.Ala140Pro
ENST00000397532.7:c.418G>C	ENSP00000380666.3:p.Ala140Pro
ENST00000488800.5:c.418G>C	ENSP00000421554.1:p.Ala140Pro
ENST00000554517.5:c.-300+6657G>C	ENSP00000452083.1:n.-300+6657G>C
ENST00000554758.1:c.418G>C	ENSP00000450671.1:p.Ala140Pro
ENST00000555702.5:c.418G>C	ENSP00000451881.1:p.Ala140Pro
ENST00000556287.5:c.418G>C	ENSP00000450715.1:p.Ala140Pro
NM_001126105.2:c.418G>C , LRG_695t1:c.418G>C	NP_001119577.1:p.Ala140Pro
NM_001126106.2:c.418G>C , LRG_695t2:c.418G>C	NP_001119578.1:p.Ala140Pro
NR_040448.1:n.1033G>C
XM_006720302.1:c.418G>C	XP_006720365.1:p.Ala140Pro
XM_011537298.1:c.418G>C	XP_011535600.1:p.Ala140Pro
XM_011537299.1:c.418G>C	XP_011535601.1:p.Ala140Pro
XM_006720302.2:c.418G>C	XP_006720365.1:p.Ala140Pro
XM_011537298.3:c.418G>C	XP_011535600.1:p.Ala140Pro
NM_001126105.3:c.418G>C	NP_001119577.1:p.Ala140Pro
NM_001126106.4:c.418G>C	NP_001119578.1:p.Ala140Pro
NM_003982.4:c.418G>C MANE Select	NP_003973.3:p.Ala140Pro