Canonical Allele Identifier: CA7104494

Gene: SLC7A7

Linked Data

• ClinVar Variation Id: 312817
• ClinVar RCV Id: RCV000268955 ; RCV002262976
• dbSNP Id: rs531862402
• ExAC: 14:23244647 A / G
• gnomAD v2: 14-23244647-A-G
• gnomAD v3: 14-22775438-A-G
• gnomAD v4: 14-22775438-A-G
• MyVariant Identifiers: chr14:g.23244647A>G (hg19) ; chr14:g.22775438A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.22775438A>G , CM000676.2:g.22775438A>G	GRCh38
NC_000014.8:g.23244647A>G , CM000676.1:g.23244647A>G	GRCh37
NC_000014.7:g.22314487A>G	NCBI36
NG_012851.2:g.59383T>C , LRG_695:g.59383T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555911.2:c.1095+6T>C	ENSP00000452551.2:n.1095+6T>C
ENST00000698939.1:c.*161+6T>C	ENSP00000514047.1:n.*161+6T>C
ENST00000698940.1:n.157+6T>C
ENST00000397532.9:c.1095+6T>C	ENSP00000380666.4:n.1095+6T>C
ENST00000674313.1:c.1095+6T>C MANE Select	ENSP00000501493.1:n.1095+6T>C
ENST00000285850.11:c.1095+6T>C	ENSP00000285850.7:n.1095+6T>C
ENST00000397528.8:c.1095+6T>C	ENSP00000380662.4:n.1095+6T>C
ENST00000397529.6:c.1095+6T>C	ENSP00000380663.2:n.1095+6T>C
ENST00000397532.7:c.1095+6T>C	ENSP00000380666.3:n.1095+6T>C
ENST00000554061.5:n.766+6T>C
ENST00000554517.5:c.297+6T>C	ENSP00000452083.1:n.297+6T>C
ENST00000555678.1:n.356+6T>C
ENST00000555702.5:c.1095+6T>C	ENSP00000451881.1:n.1095+6T>C
ENST00000556287.5:c.*58+6T>C	ENSP00000450715.1:n.*58+6T>C
ENST00000556350.1:c.239+6T>C
NM_001126105.2:c.1095+6T>C , LRG_695t1:c.1095+6T>C	NP_001119577.1:n.1095+6T>C
NM_001126106.2:c.1095+6T>C , LRG_695t2:c.1095+6T>C	NP_001119578.1:n.1095+6T>C
NR_040448.1:n.1710+6T>C
XM_006720302.1:c.1095+6T>C	XP_006720365.1:n.1095+6T>C
XM_011537298.1:c.1095+6T>C	XP_011535600.1:n.1095+6T>C
XM_011537299.1:c.1095+6T>C	XP_011535601.1:n.1095+6T>C
XM_006720302.2:c.1095+6T>C	XP_006720365.1:n.1095+6T>C
XM_011537298.3:c.1095+6T>C	XP_011535600.1:n.1095+6T>C
NM_001126105.3:c.1095+6T>C	NP_001119577.1:n.1095+6T>C
NM_001126106.4:c.1095+6T>C	NP_001119578.1:n.1095+6T>C
NM_003982.4:c.1095+6T>C MANE Select	NP_003973.3:n.1095+6T>C