Canonical Allele Identifier: CA7104777

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 312828
• ClinVar RCV Id: RCV000306989 ; RCV000417698 ; RCV003910169
• dbSNP Id: rs72552273
• ExAC: 14:23282625 C / T
• gnomAD v2: 14-23282625-C-T
• gnomAD v3: 14-22813416-C-T
• gnomAD v4: 14-22813416-C-T
• MyVariant Identifiers: chr14:g.23282625C>T (hg19) ; chr14:g.22813416C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22813416C>T , CM000676.2:g.22813416C>T	GRCh38
NC_000014.8:g.23282625C>T , CM000676.1:g.23282625C>T	GRCh37
NC_000014.7:g.22352465C>T	NCBI36
NG_012851.2:g.21405G>A , LRG_695:g.21405G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.-18G>A	ENSP00000452551.2:n.-18G>A
ENST00000698939.1:c.-18G>A	ENSP00000514047.1:n.-18G>A
ENST00000397532.9:c.-18G>A	ENSP00000380666.4:n.-18G>A
ENST00000674313.1:c.-18G>A MANE Select	ENSP00000501493.1:n.-18G>A
ENST00000285850.11:c.-18G>A	ENSP00000285850.7:n.-18G>A
ENST00000397528.8:c.-18G>A	ENSP00000380662.4:n.-18G>A
ENST00000397529.6:c.-18G>A	ENSP00000380663.2:n.-18G>A
ENST00000397532.7:c.-18G>A	ENSP00000380666.3:n.-18G>A
ENST00000488800.5:c.-18G>A	ENSP00000421554.1:n.-18G>A
ENST00000553874.5:n.569G>A
ENST00000554517.5:c.-300+6222G>A	ENSP00000452083.1:n.-300+6222G>A
ENST00000554741.5:c.-18G>A	ENSP00000451063.1:n.-18G>A
ENST00000554758.1:c.-18G>A	ENSP00000450671.1:n.-18G>A
ENST00000555251.1:c.-18G>A	ENSP00000451983.1:n.-18G>A
ENST00000555702.5:c.-18G>A	ENSP00000451881.1:n.-18G>A
ENST00000555911.1:c.-18G>A	ENSP00000452551.1:n.-18G>A
ENST00000555959.1:c.-18G>A	ENSP00000452256.1:n.-18G>A
ENST00000556287.5:c.-18G>A	ENSP00000450715.1:n.-18G>A
ENST00000557129.5:c.-18G>A	ENSP00000450729.1:n.-18G>A
ENST00000557629.5:c.-18G>A	ENSP00000450495.1:n.-18G>A
NM_001126105.2:c.-18G>A , LRG_695t1:c.-18G>A	NP_001119577.1:n.-18G>A
NM_001126106.2:c.-18G>A , LRG_695t2:c.-18G>A	NP_001119578.1:n.-18G>A
NR_040448.1:n.598G>A
XM_006720302.1:c.-18G>A	XP_006720365.1:n.-18G>A
XM_011537298.1:c.-18G>A	XP_011535600.1:n.-18G>A
XM_011537299.1:c.-18G>A	XP_011535601.1:n.-18G>A
XM_006720302.2:c.-18G>A	XP_006720365.1:n.-18G>A
XM_011537298.3:c.-18G>A	XP_011535600.1:n.-18G>A
NM_001126105.3:c.-18G>A	NP_001119577.1:n.-18G>A
NM_001126106.4:c.-18G>A	NP_001119578.1:n.-18G>A
NM_003982.4:c.-18G>A MANE Select	NP_003973.3:n.-18G>A