Canonical Allele Identifier: CA316020

Gene: NHLRC1

Linked Data

• ClinVar Variation Id: 206182
• ClinVar RCV Id: RCV000188203 ; RCV000638342 ; RCV002317125
• dbSNP Id: rs78324544
• ExAC: 6:18121747 G / A
• gnomAD v2: 6-18121747-G-A
• gnomAD v3: 6-18121516-G-A
• gnomAD v4: 6-18121516-G-A
• MyVariant Identifiers: chr6:g.18121747G>A (hg19) ; chr6:g.18121516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.18121516G>A , CM000668.2:g.18121516G>A	GRCh38
NC_000006.11:g.18121747G>A , CM000668.1:g.18121747G>A	GRCh37
NC_000006.10:g.18229726G>A	NCBI36
NG_016750.1:g.6105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340650.6:c.1091C>T MANE Select	ENSP00000345464.3:p.Ser364Leu
ENST00000340650.4:c.1091C>T	ENSP00000345464.3:p.Ser364Leu
NM_198586.2:c.1091C>T	NP_940988.2:p.Ser364Leu
NM_198586.3:c.1091C>T MANE Select	NP_940988.2:p.Ser364Leu