Canonical Allele Identifier: CA318088650

Gene: CXADR

Linked Data

• dbSNP Id: rs1041889597
• MyVariant Identifiers: chr21:g.18942183T>C (hg19) ; chr21:g.17569865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.17569865T>C , CM000683.2:g.17569865T>C	GRCh38
NC_000021.8:g.18942183T>C , CM000683.1:g.18942183T>C	GRCh37
NC_000021.7:g.17864054T>C	NCBI36
NG_029458.1:g.61960T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284878.12:c.*4173T>C MANE Select	ENSP00000284878.7:n.*4173T>C
ENST00000284878.11:c.*4173T>C	ENSP00000284878.7:n.*4173T>C
ENST00000400169.1:c.1017+4254T>C	ENSP00000383033.1:n.1017+4254T>C
NM_001207063.1:c.*4250T>C	NP_001193992.1:n.*4250T>C
NM_001207064.1:c.*4250T>C	NP_001193993.1:n.*4250T>C
NM_001207065.1:c.*4378T>C	NP_001193994.1:n.*4378T>C
NM_001207066.1:c.1017+4254T>C	NP_001193995.1:n.1017+4254T>C
NM_001338.4:c.*4173T>C	NP_001329.1:n.*4173T>C
XM_011529475.1:c.1017+4254T>C	XP_011527777.1:n.1017+4254T>C
XM_011529476.1:c.1017+4254T>C	XP_011527778.1:n.1017+4254T>C
XM_011529477.1:c.755+4254T>C	XP_011527779.1:n.755+4254T>C
XM_011529478.1:c.755+4254T>C	XP_011527780.1:n.755+4254T>C
XM_011529479.1:c.755+4254T>C	XP_011527781.1:n.755+4254T>C
XM_011529476.2:c.1017+4254T>C	XP_011527778.1:n.1017+4254T>C
XM_011529477.2:c.755+4254T>C	XP_011527779.1:n.755+4254T>C
XM_011529478.2:c.755+4254T>C	XP_011527780.1:n.755+4254T>C
XR_001754814.1:n.1131+4254T>C
NM_001338.5:c.*4173T>C MANE Select	NP_001329.1:n.*4173T>C
NM_001207063.2:c.*4250T>C	NP_001193992.1:n.*4250T>C
NM_001207064.2:c.*4250T>C	NP_001193993.1:n.*4250T>C
NM_001207065.2:c.*4378T>C	NP_001193994.1:n.*4378T>C
NM_001207066.2:c.1017+4254T>C	NP_001193995.1:n.1017+4254T>C