Canonical Allele Identifier: CA14045531

Gene: EVL

Linked Data

• dbSNP Id: rs1190983
• gnomAD v2: 14-100497986-T-C
• gnomAD v3: 14-100031649-T-C
• gnomAD v4: 14-100031649-T-C
• MyVariant Identifiers: chr14:g.100497986T>C (hg19) ; chr14:g.100031649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.100031649T>C , CM000676.2:g.100031649T>C	GRCh38
NC_000014.8:g.100497986T>C , CM000676.1:g.100497986T>C	GRCh37
NC_000014.7:g.99567739T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000402714.6:c.6-53038T>C	ENSP00000384720.2:n.6-53038T>C
ENST00000544450.6:c.23+11962T>C	ENSP00000437904.2:n.23+11962T>C
ENST00000554460.5:n.112+11962T>C
XM_005267749.2:c.23+11962T>C	XP_005267806.1:n.23+11962T>C
XM_011536827.1:c.23+11962T>C	XP_011535129.1:n.23+11962T>C
XM_011536828.1:c.23+11962T>C	XP_011535130.1:n.23+11962T>C
NM_001330221.1:c.6-53038T>C	NP_001317150.1:n.6-53038T>C
XM_005267749.3:c.23+11962T>C	XP_005267806.1:n.23+11962T>C
XM_011536828.2:c.23+11962T>C	XP_011535130.1:n.23+11962T>C
XM_017021363.2:c.23+11962T>C	XP_016876852.1:n.23+11962T>C
XR_001750355.1:n.717+11962T>C
XR_001750356.1:n.717+11962T>C
XR_001750357.2:n.717+11962T>C
XR_001750360.1:n.605-53038T>C
XR_001750362.1:n.717+11962T>C
XR_001750363.1:n.717+11962T>C
XR_001750364.1:n.717+11962T>C
XR_001750366.1:n.717+11962T>C
NM_001330221.2:c.6-53038T>C	NP_001317150.1:n.6-53038T>C