Canonical Allele Identifier: CA263838

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 56374
• ClinVar RCV Id: RCV000049787 ; RCV001547252 ; RCV003415815
• dbSNP Id: rs386833822
• ExAC: 14:23249134 C / T
• gnomAD v2: 14-23249134-C-T
• gnomAD v3: 14-22779925-C-T
• gnomAD v4: 14-22779925-C-T
• COSMIC: COSM5426013
• MyVariant Identifiers: chr14:g.23249134C>T (hg19) ; chr14:g.22779925C>T (hg38)
• PubMed: PMID:10655553 ; PMID:10737982

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22779925C>T , CM000676.2:g.22779925C>T	GRCh38
NC_000014.8:g.23249134C>T , CM000676.1:g.23249134C>T	GRCh37
NC_000014.7:g.22318974C>T	NCBI36
NG_012851.2:g.54896G>A , LRG_695:g.54896G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000555911.2:c.625+1G>A	ENSP00000452551.2:n.625+1G>A
ENST00000698939.1:c.625+1G>A	ENSP00000514047.1:n.625+1G>A
ENST00000397532.9:c.625+1G>A	ENSP00000380666.4:n.625+1G>A
ENST00000674313.1:c.625+1G>A MANE Select	ENSP00000501493.1:n.625+1G>A
ENST00000285850.11:c.625+1G>A	ENSP00000285850.7:n.625+1G>A
ENST00000397528.8:c.625+1G>A	ENSP00000380662.4:n.625+1G>A
ENST00000397529.6:c.625+1G>A	ENSP00000380663.2:n.625+1G>A
ENST00000397532.7:c.625+1G>A	ENSP00000380666.3:n.625+1G>A
ENST00000554061.5:n.296+1G>A
ENST00000554517.5:c.-174+1G>A	ENSP00000452083.1:n.-174+1G>A
ENST00000555702.5:c.625+1G>A	ENSP00000451881.1:n.625+1G>A
ENST00000556287.5:c.625+1G>A	ENSP00000450715.1:n.625+1G>A
NM_001126105.2:c.625+1G>A , LRG_695t1:c.625+1G>A	NP_001119577.1:n.625+1G>A
NM_001126106.2:c.625+1G>A , LRG_695t2:c.625+1G>A	NP_001119578.1:n.625+1G>A
NR_040448.1:n.1240+1G>A
XM_006720302.1:c.625+1G>A	XP_006720365.1:n.625+1G>A
XM_011537298.1:c.625+1G>A	XP_011535600.1:n.625+1G>A
XM_011537299.1:c.625+1G>A	XP_011535601.1:n.625+1G>A
XM_006720302.2:c.625+1G>A	XP_006720365.1:n.625+1G>A
XM_011537298.3:c.625+1G>A	XP_011535600.1:n.625+1G>A
NM_001126105.3:c.625+1G>A	NP_001119577.1:n.625+1G>A
NM_001126106.4:c.625+1G>A	NP_001119578.1:n.625+1G>A
NM_003982.4:c.625+1G>A MANE Select	NP_003973.3:n.625+1G>A