Canonical Allele Identifier: CA316014

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 206179
• ClinVar RCV Id: RCV000188200 ; RCV000638341 ; RCV002372150 ; RCV003436981
• dbSNP Id: rs142941035
• ExAC: 6:18121869 G / A
• gnomAD v2: 6-18121869-G-A
• gnomAD v3: 6-18121638-G-A
• gnomAD v4: 6-18121638-G-A
• MyVariant Identifiers: chr6:g.18121869G>A (hg19) ; chr6:g.18121638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18121638G>A , CM000668.2:g.18121638G>A	GRCh38
NC_000006.11:g.18121869G>A , CM000668.1:g.18121869G>A	GRCh37
NC_000006.10:g.18229848G>A	NCBI36
NG_016750.1:g.5983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.969C>T MANE Select	ENSP00000345464.3:p.Ser323=
ENST00000340650.4:c.969C>T	ENSP00000345464.3:p.Ser323=
NM_198586.2:c.969C>T	NP_940988.2:p.Ser323=
NM_198586.3:c.969C>T MANE Select	NP_940988.2:p.Ser323=