Canonical Allele Identifier: CA627595881

Gene: ITGB4 GALK1

Linked Data

• dbSNP Id: rs1375340162
• gnomAD v2: 17-73753488-C-G
• gnomAD v4: 17-75757407-C-G
• MyVariant Identifiers: chr17:g.73753488C>G (hg19) ; chr17:g.75757407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75757407C>G , CM000679.2:g.75757407C>G	GRCh38
NC_000017.10:g.73753488C>G , CM000679.1:g.73753488C>G	GRCh37
NC_000017.9:g.71265083C>G	NCBI36
NG_007372.1:g.40973C>G
NG_008079.1:g.12793G>C
NG_008079.2:g.12793G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.5279-9C>G (ITGB4)	ENSP00000400217.2:n.5279-9C>G
ENST00000200181.8:c.5330-9C>G (ITGB4) MANE Select	ENSP00000200181.3:n.5330-9C>G
ENST00000200181.7:c.5330-9C>G (ITGB4)	ENSP00000200181.3:n.5330-9C>G
ENST00000225614.6:c.*22+627G>C (GALK1)	ENSP00000225614.1:n.*22+627G>C
ENST00000449880.6:c.5279-9C>G (ITGB4)	ENSP00000400217.2:n.5279-9C>G
ENST00000450894.7:c.5120-9C>G (ITGB4)	ENSP00000405536.3:n.5120-9C>G
ENST00000578318.1:c.277C>G (ITGB4)
ENST00000579662.5:c.5120-9C>G (ITGB4)	ENSP00000463651.1:n.5120-9C>G
ENST00000582629.1:c.266-219C>G (ITGB4)	ENSP00000463788.1:n.266-219C>G
ENST00000589643.1:n.254+627G>C (GALK1)
NM_000213.3:c.5330-9C>G (ITGB4)	NP_000204.3:n.5330-9C>G
NM_001005619.1:c.5279-9C>G (ITGB4)	NP_001005619.1:n.5279-9C>G
NM_001005731.1:c.5120-9C>G (ITGB4)	NP_001005731.1:n.5120-9C>G
XM_005257309.2:c.5489-9C>G (ITGB4)	XP_005257366.1:n.5489-9C>G
XM_005257311.3:c.5489-9C>G (ITGB4)	XP_005257368.1:n.5489-9C>G
XM_005257312.2:c.5120-9C>G (ITGB4)	XP_005257369.1:n.5120-9C>G
XM_006721866.2:c.5594-9C>G (ITGB4)	XP_006721929.1:n.5594-9C>G
XM_006721867.2:c.5435-9C>G (ITGB4)	XP_006721930.1:n.5435-9C>G
XM_006721868.2:c.5384-9C>G (ITGB4)	XP_006721931.1:n.5384-9C>G
XM_006721870.2:c.5225-9C>G (ITGB4)	XP_006721933.1:n.5225-9C>G
XM_011524751.1:c.5285-9C>G (ITGB4)	XP_011523053.1:n.5285-9C>G
XM_011524752.1:c.3434-9C>G (ITGB4)	XP_011523054.1:n.3434-9C>G
NM_000213.4:c.5330-9C>G (ITGB4)	NP_000204.3:n.5330-9C>G
NM_001005731.2:c.5120-9C>G (ITGB4)	NP_001005731.1:n.5120-9C>G
NM_001321123.1:c.5120-9C>G (ITGB4)	NP_001308052.1:n.5120-9C>G
XM_005257311.4:c.5489-9C>G (ITGB4)	XP_005257368.1:n.5489-9C>G
XM_006721866.3:c.5594-9C>G (ITGB4)	XP_006721929.1:n.5594-9C>G
XM_006721867.3:c.5435-9C>G (ITGB4)	XP_006721930.1:n.5435-9C>G
XM_006721868.3:c.5384-9C>G (ITGB4)	XP_006721931.1:n.5384-9C>G
XM_006721870.3:c.5225-9C>G (ITGB4)	XP_006721933.1:n.5225-9C>G
XM_011524751.2:c.5285-9C>G (ITGB4)	XP_011523053.1:n.5285-9C>G
XM_011524752.2:c.3434-9C>G (ITGB4)	XP_011523054.1:n.3434-9C>G
NM_000213.5:c.5330-9C>G (ITGB4) MANE Select	NP_000204.3:n.5330-9C>G
NM_001005731.3:c.5120-9C>G (ITGB4)	NP_001005731.1:n.5120-9C>G
NM_001321123.2:c.5120-9C>G (ITGB4)	NP_001308052.1:n.5120-9C>G
NM_001381985.1:c.*22+627G>C (GALK1)	NP_001368914.1:n.*22+627G>C