Canonical Allele Identifier: CA185436930

Gene: HHLA1

Linked Data

• dbSNP Id: rs150384536
• gnomAD v2: 8-133103227-C-G
• gnomAD v3: 8-132090980-C-G
• gnomAD v4: 8-132090980-C-G
• MyVariant Identifiers: chr8:g.133103227C>G (hg19) ; chr8:g.132090980C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132090980C>G , CM000670.2:g.132090980C>G	GRCh38
NC_000008.10:g.133103227C>G , CM000670.1:g.133103227C>G	GRCh37
NC_000008.9:g.133172409C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414222.2:c.449-1381G>C MANE Select	ENSP00000388322.1:n.449-1381G>C
ENST00000673615.1:c.557-1381G>C	ENSP00000500443.1:n.557-1381G>C
ENST00000414222.1:c.449-1381G>C	ENSP00000388322.1:n.449-1381G>C
ENST00000434736.6:c.557-1381G>C	ENSP00000407107.2:n.557-1381G>C
NM_001145095.1:c.449-1381G>C	NP_001138567.1:n.449-1381G>C
NM_001145095.3:c.449-1381G>C MANE Select	NP_001138567.1:n.449-1381G>C