Canonical Allele Identifier: CA174292

Gene: SCRN1

Linked Data

• ClinVar Variation Id: 161537
• ClinVar RCV Id: RCV000149072
• dbSNP Id: rs193920979
• gnomAD v2: 7-29963595-G-A
• gnomAD v3: 7-29923979-G-A
• gnomAD v4: 7-29923979-G-A
• COSMIC: COSM1178799 ; COSM1178800
• MyVariant Identifiers: chr7:g.29963595G>A (hg19) ; chr7:g.29923979G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29923979G>A , CM000669.2:g.29923979G>A	GRCh38
NC_000007.13:g.29963595G>A , CM000669.1:g.29963595G>A	GRCh37
NC_000007.12:g.29930120G>A	NCBI36
NG_047114.1:g.71311C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.1223C>T MANE Select	ENSP00000242059.5:p.Thr408Met
ENST00000242059.9:c.1223C>T	ENSP00000242059.5:p.Thr408Met
ENST00000409497.5:c.1223C>T	ENSP00000386872.1:p.Thr408Met
ENST00000425819.6:c.1019C>T	ENSP00000414245.2:p.Thr340Met
ENST00000426154.5:c.1223C>T	ENSP00000409068.1:p.Thr408Met
ENST00000434476.6:c.1283C>T	ENSP00000388942.1:p.Thr428Met
NM_001145513.1:c.1223C>T	NP_001138985.1:p.Thr408Met
NM_001145514.1:c.1283C>T	NP_001138986.1:p.Thr428Met
NM_001145515.1:c.1019C>T	NP_001138987.1:p.Thr340Met
NM_014766.4:c.1223C>T	NP_055581.3:p.Thr408Met
XM_005249918.3:c.1223C>T	XP_005249975.1:p.Thr408Met
XM_011515653.1:c.1223C>T	XP_011513955.1:p.Thr408Met
XM_024447007.1:c.1223C>T	XP_024302775.1:p.Thr408Met
NM_014766.5:c.1223C>T MANE Select	NP_055581.3:p.Thr408Met
NM_001145515.2:c.1019C>T	NP_001138987.1:p.Thr340Met