Canonical Allele Identifier: CA316036

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 206190
• ClinVar RCV Id: RCV000675657 ; RCV001081130 ; RCV002362984 ; RCV003937662
• dbSNP Id: rs140850172
• ExAC: 6:18122157 A / T
• gnomAD v2: 6-18122157-A-T
• gnomAD v3: 6-18121926-A-T
• gnomAD v4: 6-18121926-A-T
• MyVariant Identifiers: chr6:g.18122157A>T (hg19) ; chr6:g.18121926A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18121926A>T , CM000668.2:g.18121926A>T	GRCh38
NC_000006.11:g.18122157A>T , CM000668.1:g.18122157A>T	GRCh37
NC_000006.10:g.18230136A>T	NCBI36
NG_016750.1:g.5695T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.681T>A MANE Select	ENSP00000345464.3:p.Asn227Lys
ENST00000340650.4:c.681T>A	ENSP00000345464.3:p.Asn227Lys
NM_198586.2:c.681T>A	NP_940988.2:p.Asn227Lys
NM_198586.3:c.681T>A MANE Select	NP_940988.2:p.Asn227Lys