Canonical Allele Identifier: CA3649891

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 416515
• ClinVar RCV Id: RCV000472696 ; RCV001675909 ; RCV003915316 ; RCV002313232
• dbSNP Id: rs148553723
• ExAC: 6:18121848 C / T
• gnomAD v2: 6-18121848-C-T
• gnomAD v3: 6-18121617-C-T
• gnomAD v4: 6-18121617-C-T
• MyVariant Identifiers: chr6:g.18121848C>T (hg19) ; chr6:g.18121617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18121617C>T , CM000668.2:g.18121617C>T	GRCh38
NC_000006.11:g.18121848C>T , CM000668.1:g.18121848C>T	GRCh37
NC_000006.10:g.18229827C>T	NCBI36
NG_016750.1:g.6004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.990G>A MANE Select	ENSP00000345464.3:p.Gln330=
ENST00000340650.4:c.990G>A	ENSP00000345464.3:p.Gln330=
NM_198586.2:c.990G>A	NP_940988.2:p.Gln330=
NM_198586.3:c.990G>A MANE Select	NP_940988.2:p.Gln330=