Canonical Allele Identifier: CA1568996
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs768509346
gnomAD v2: 2-27308099-G-C
gnomAD v4: 2-27085231-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085231G>C , CM000664.2:g.27085231G>C GRCh38
NC_000002.11:g.27308099G>C , CM000664.1:g.27308099G>C GRCh37
NC_000002.10:g.27161603G>C NCBI36
NG_012199.1:g.3489G>C
NG_046849.1:g.11665G>C
NG_012199.2:g.3489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2647G>C MANE Select ENSP00000369677.4:p.Glu883Gln
ENST00000380320.8:c.2647G>C ENSP00000369677.4:p.Glu883Gln
ENST00000433140.1:c.639G>C
NM_007046.3:c.2647G>C NP_008977.1:p.Glu883Gln
XM_006711928.2:c.2575+223G>C XP_006711991.1:n.2575+223G>C
NM_007046.4:c.2647G>C MANE Select NP_008977.1:p.Glu883Gln