Canonical Allele Identifier: CA8770579

Gene: ITGB4 GALK1

Linked Data

• ClinVar Variation Id: 255543
• ClinVar RCV Id: RCV000247515 ; RCV000294224 ; RCV000322321 ; RCV001610568 ; RCV001730602 ; RCV001730603
• dbSNP Id: rs871443
• ExAC: 17:73753503 T / C
• gnomAD v2: 17-73753503-T-C
• gnomAD v3: 17-75757422-T-C
• gnomAD v4: 17-75757422-T-C
• MyVariant Identifiers: chr17:g.73753503T>C (hg19) ; chr17:g.75757422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757422T>C , CM000679.2:g.75757422T>C	GRCh38
NC_000017.10:g.73753503T>C , CM000679.1:g.73753503T>C	GRCh37
NC_000017.9:g.71265098T>C	NCBI36
NG_007372.1:g.40988T>C
NG_008079.1:g.12778A>G
NG_008079.2:g.12778A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000449880.7:c.5285T>C (ITGB4)	ENSP00000400217.2:p.Leu1762Pro
ENST00000200181.8:c.5336T>C (ITGB4) MANE Select	ENSP00000200181.3:p.Leu1779Pro
ENST00000200181.7:c.5336T>C (ITGB4)	ENSP00000200181.3:p.Leu1779Pro
ENST00000225614.6:c.*22+612A>G (GALK1)	ENSP00000225614.1:n.*22+612A>G
ENST00000449880.6:c.5285T>C (ITGB4)	ENSP00000400217.2:p.Leu1762Pro
ENST00000450894.7:c.5126T>C (ITGB4)	ENSP00000405536.3:p.Leu1709Pro
ENST00000578318.1:c.292T>C (ITGB4)
ENST00000579662.5:c.5126T>C (ITGB4)	ENSP00000463651.1:p.Leu1709Pro
ENST00000582629.1:c.266-204T>C (ITGB4)	ENSP00000463788.1:n.266-204T>C
ENST00000589643.1:n.254+612A>G (GALK1)
NM_000213.3:c.5336T>C (ITGB4)	NP_000204.3:p.Leu1779Pro
NM_001005619.1:c.5285T>C (ITGB4)	NP_001005619.1:p.Leu1762Pro
NM_001005731.1:c.5126T>C (ITGB4)	NP_001005731.1:p.Leu1709Pro
XM_005257309.2:c.5495T>C (ITGB4)	XP_005257366.1:p.Leu1832Pro
XM_005257311.3:c.5495T>C (ITGB4)	XP_005257368.1:p.Leu1832Pro
XM_005257312.2:c.5126T>C (ITGB4)	XP_005257369.1:p.Leu1709Pro
XM_006721866.2:c.5600T>C (ITGB4)	XP_006721929.1:p.Leu1867Pro
XM_006721867.2:c.5441T>C (ITGB4)	XP_006721930.1:p.Leu1814Pro
XM_006721868.2:c.5390T>C (ITGB4)	XP_006721931.1:p.Leu1797Pro
XM_006721870.2:c.5231T>C (ITGB4)	XP_006721933.1:p.Leu1744Pro
XM_011524751.1:c.5291T>C (ITGB4)	XP_011523053.1:p.Leu1764Pro
XM_011524752.1:c.3440T>C (ITGB4)	XP_011523054.1:p.Leu1147Pro
NM_000213.4:c.5336T>C (ITGB4)	NP_000204.3:p.Leu1779Pro
NM_001005731.2:c.5126T>C (ITGB4)	NP_001005731.1:p.Leu1709Pro
NM_001321123.1:c.5126T>C (ITGB4)	NP_001308052.1:p.Leu1709Pro
XM_005257311.4:c.5495T>C (ITGB4)	XP_005257368.1:p.Leu1832Pro
XM_006721866.3:c.5600T>C (ITGB4)	XP_006721929.1:p.Leu1867Pro
XM_006721867.3:c.5441T>C (ITGB4)	XP_006721930.1:p.Leu1814Pro
XM_006721868.3:c.5390T>C (ITGB4)	XP_006721931.1:p.Leu1797Pro
XM_006721870.3:c.5231T>C (ITGB4)	XP_006721933.1:p.Leu1744Pro
XM_011524751.2:c.5291T>C (ITGB4)	XP_011523053.1:p.Leu1764Pro
XM_011524752.2:c.3440T>C (ITGB4)	XP_011523054.1:p.Leu1147Pro
NM_000213.5:c.5336T>C (ITGB4) MANE Select	NP_000204.3:p.Leu1779Pro
NM_001005731.3:c.5126T>C (ITGB4)	NP_001005731.1:p.Leu1709Pro
NM_001321123.2:c.5126T>C (ITGB4)	NP_001308052.1:p.Leu1709Pro
NM_001381985.1:c.*22+612A>G (GALK1)	NP_001368914.1:n.*22+612A>G