Canonical Allele Identifier: CA364656428

Gene: ELOVL4

Linked Data

• MyVariant Identifiers: chr6:g.80631343T>A (hg19) ; chr6:g.79921626T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79921626T>A , CM000668.2:g.79921626T>A	GRCh38
NC_000006.11:g.80631343T>A , CM000668.1:g.80631343T>A	GRCh37
NC_000006.10:g.80688062T>A	NCBI36
NG_009108.1:g.30973A>T
NG_009108.2:g.30973A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369816.5:c.540A>T MANE Select	ENSP00000358831.4:p.Gln180His
ENST00000369816.4:c.540A>T	ENSP00000358831.4:p.Gln180His
NM_022726.3:c.540A>T	NP_073563.1:p.Gln180His
NM_022726.4:c.540A>T MANE Select	NP_073563.1:p.Gln180His