Canonical Allele Identifier: CA156019763

Gene: SCRN1

Linked Data

• dbSNP Id: rs1023410353
• gnomAD v2: 7-29962771-C-T
• gnomAD v3: 7-29923155-C-T
• gnomAD v4: 7-29923155-C-T
• MyVariant Identifiers: chr7:g.29962771C>T (hg19) ; chr7:g.29923155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29923155C>T , CM000669.2:g.29923155C>T	GRCh38
NC_000007.13:g.29962771C>T , CM000669.1:g.29962771C>T	GRCh37
NC_000007.12:g.29929296C>T	NCBI36
NG_047114.1:g.72135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.*802G>A MANE Select	ENSP00000242059.5:n.*802G>A
ENST00000242059.9:c.*802G>A	ENSP00000242059.5:n.*802G>A
ENST00000426154.5:c.*802G>A	ENSP00000409068.1:n.*802G>A
NM_001145513.1:c.*802G>A	NP_001138985.1:n.*802G>A
NM_001145514.1:c.*802G>A	NP_001138986.1:n.*802G>A
NM_001145515.1:c.*802G>A	NP_001138987.1:n.*802G>A
NM_014766.4:c.*802G>A	NP_055581.3:n.*802G>A
XM_005249918.3:c.*802G>A	XP_005249975.1:n.*802G>A
XM_011515653.1:c.*802G>A	XP_011513955.1:n.*802G>A
XM_024447007.1:c.*802G>A	XP_024302775.1:n.*802G>A
NM_014766.5:c.*802G>A MANE Select	NP_055581.3:n.*802G>A
NM_001145515.2:c.*802G>A	NP_001138987.1:n.*802G>A