Canonical Allele Identifier: CA360812457

Gene: CARINH LINC02863

Linked Data

• dbSNP Id: rs1753237192
• gnomAD v3: 5-132419931-C-G
• gnomAD v4: 5-132419931-C-G
• MyVariant Identifiers: chr5:g.131755623C>G (hg19) ; chr5:g.132419931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132419931C>G , CM000667.2:g.132419931C>G	GRCh38
NC_000005.9:g.131755623C>G , CM000667.1:g.131755623C>G	GRCh37
NC_000005.8:g.131783522C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-218C>G	ENSP00000492349.2:n.-218C>G
ENST00000638504.1:n.197C>G
ENST00000638568.2:c.-360C>G	ENSP00000491158.2:n.-360C>G
ENST00000639899.1:n.240C>G
ENST00000337752.6:c.39C>G (CARINH)	ENSP00000338228.2:p.His13Gln
ENST00000378947.7:c.39C>G (CARINH)	ENSP00000368230.3:p.His13Gln
ENST00000378953.8:c.39C>G (CARINH)	ENSP00000368236.4:p.His13Gln
ENST00000407797.5:c.39C>G (CARINH)	ENSP00000385513.1:p.His13Gln
ENST00000461203.5:n.170C>G (CARINH)
ENST00000621237.1:c.39C>G (CARINH)	ENSP00000481774.1:p.His13Gln
NR_045116.1:n.378C>G (CARINH)
NM_001207001.2:c.39C>G (CARINH)	NP_001193930.1:p.His13Gln
XR_948788.3:n.894-182G>C (LINC02863)
NR_161242.1:n.222C>G (CARINH)