Canonical Allele Identifier: CA346156318
Gene: EMILIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1472772044
gnomAD v2: 2-27308132-C-T
gnomAD v4: 2-27085264-C-T
MyVariant Identifiers: chr2:g.27308132C>T (hg19) chr2:g.27085264C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27085264C>T , CM000664.2:g.27085264C>T GRCh38
NC_000002.11:g.27308132C>T , CM000664.1:g.27308132C>T GRCh37
NC_000002.10:g.27161636C>T NCBI36
NG_012199.1:g.3522C>T
NG_046849.1:g.11698C>T
NG_012199.2:g.3522C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380320.9:c.2680C>T MANE Select ENSP00000369677.4:p.Leu894Phe
ENST00000380320.8:c.2680C>T ENSP00000369677.4:p.Leu894Phe
ENST00000433140.1:c.672C>T
NM_007046.3:c.2680C>T NP_008977.1:p.Leu894Phe
XM_006711928.2:c.2575+256C>T XP_006711991.1:n.2575+256C>T
NM_007046.4:c.2680C>T MANE Select NP_008977.1:p.Leu894Phe
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