Canonical Allele Identifier: CA1099798021

Gene: SCRN1

Linked Data

• dbSNP Id: rs1786822639
• gnomAD v3: 7-29923127-C-T
• gnomAD v4: 7-29923127-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29923127C>T , CM000669.2:g.29923127C>T	GRCh38
NC_000007.13:g.29962743C>T , CM000669.1:g.29962743C>T	GRCh37
NC_000007.12:g.29929268C>T	NCBI36
NG_047114.1:g.72163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.*830G>A MANE Select	ENSP00000242059.5:n.*830G>A
ENST00000242059.9:c.*830G>A	ENSP00000242059.5:n.*830G>A
ENST00000426154.5:c.*830G>A	ENSP00000409068.1:n.*830G>A
NM_001145513.1:c.*830G>A	NP_001138985.1:n.*830G>A
NM_001145514.1:c.*830G>A	NP_001138986.1:n.*830G>A
NM_001145515.1:c.*830G>A	NP_001138987.1:n.*830G>A
NM_014766.4:c.*830G>A	NP_055581.3:n.*830G>A
XM_005249918.3:c.*830G>A	XP_005249975.1:n.*830G>A
XM_011515653.1:c.*830G>A	XP_011513955.1:n.*830G>A
XM_024447007.1:c.*830G>A	XP_024302775.1:n.*830G>A
NM_014766.5:c.*830G>A MANE Select	NP_055581.3:n.*830G>A
NM_001145515.2:c.*830G>A	NP_001138987.1:n.*830G>A