Canonical Allele Identifier: CA360812446

Gene: CARINH LINC02863

Linked Data

• dbSNP Id: rs1207270826
• gnomAD v2: 5-131755622-A-C
• gnomAD v4: 5-132419930-A-C
• MyVariant Identifiers: chr5:g.131755622A>C (hg19) ; chr5:g.132419930A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132419930A>C , CM000667.2:g.132419930A>C	GRCh38
NC_000005.9:g.131755622A>C , CM000667.1:g.131755622A>C	GRCh37
NC_000005.8:g.131783521A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-219A>C	ENSP00000492349.2:n.-219A>C
ENST00000638504.1:n.196A>C
ENST00000638568.2:c.-361A>C	ENSP00000491158.2:n.-361A>C
ENST00000639899.1:n.239A>C
ENST00000337752.6:c.38A>C (CARINH)	ENSP00000338228.2:p.His13Pro
ENST00000378947.7:c.38A>C (CARINH)	ENSP00000368230.3:p.His13Pro
ENST00000378953.8:c.38A>C (CARINH)	ENSP00000368236.4:p.His13Pro
ENST00000407797.5:c.38A>C (CARINH)	ENSP00000385513.1:p.His13Pro
ENST00000461203.5:n.169A>C (CARINH)
ENST00000621237.1:c.38A>C (CARINH)	ENSP00000481774.1:p.His13Pro
NR_045116.1:n.377A>C (CARINH)
NM_001207001.2:c.38A>C (CARINH)	NP_001193930.1:p.His13Pro
XR_948788.3:n.894-181T>G (LINC02863)
NR_161242.1:n.221A>C (CARINH)