Canonical Allele Identifier: CA8769486

Gene: ITGB4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75740833T>C , CM000679.2:g.75740833T>C	GRCh38
NC_000017.10:g.73736914T>C , CM000679.1:g.73736914T>C	GRCh37
NC_000017.9:g.71248509T>C	NCBI36
NG_007372.1:g.24399T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449880.7:c.2591T>C	ENSP00000400217.2:p.Leu864Pro
ENST00000200181.8:c.2591T>C MANE Select	ENSP00000200181.3:p.Leu864Pro
ENST00000200181.7:c.2591T>C	ENSP00000200181.3:p.Leu864Pro
ENST00000449880.6:c.2591T>C	ENSP00000400217.2:p.Leu864Pro
ENST00000450894.7:c.2591T>C	ENSP00000405536.3:p.Leu864Pro
ENST00000579662.5:c.2591T>C	ENSP00000463651.1:p.Leu864Pro
ENST00000580542.5:n.2656T>C
ENST00000582629.1:c.265+11456T>C	ENSP00000463788.1:n.265+11456T>C
ENST00000584558.5:n.2628T>C
NM_000213.3:c.2591T>C	NP_000204.3:p.Leu864Pro
NM_001005619.1:c.2591T>C	NP_001005619.1:p.Leu864Pro
NM_001005731.1:c.2591T>C	NP_001005731.1:p.Leu864Pro
XM_005257309.2:c.2591T>C	XP_005257366.1:p.Leu864Pro
XM_005257311.3:c.2591T>C	XP_005257368.1:p.Leu864Pro
XM_005257312.2:c.2591T>C	XP_005257369.1:p.Leu864Pro
XM_006721866.2:c.2696T>C	XP_006721929.1:p.Leu899Pro
XM_006721867.2:c.2696T>C	XP_006721930.1:p.Leu899Pro
XM_006721868.2:c.2696T>C	XP_006721931.1:p.Leu899Pro
XM_006721870.2:c.2696T>C	XP_006721933.1:p.Leu899Pro
XM_011524751.1:c.2696T>C	XP_011523053.1:p.Leu899Pro
XM_011524752.1:c.536T>C	XP_011523054.1:p.Leu179Pro
NM_000213.4:c.2591T>C	NP_000204.3:p.Leu864Pro
NM_001005731.2:c.2591T>C	NP_001005731.1:p.Leu864Pro
NM_001321123.1:c.2591T>C	NP_001308052.1:p.Leu864Pro
XM_005257311.4:c.2591T>C	XP_005257368.1:p.Leu864Pro
XM_006721866.3:c.2696T>C	XP_006721929.1:p.Leu899Pro
XM_006721867.3:c.2696T>C	XP_006721930.1:p.Leu899Pro
XM_006721868.3:c.2696T>C	XP_006721931.1:p.Leu899Pro
XM_006721870.3:c.2696T>C	XP_006721933.1:p.Leu899Pro
XM_011524751.2:c.2696T>C	XP_011523053.1:p.Leu899Pro
XM_011524752.2:c.536T>C	XP_011523054.1:p.Leu179Pro
NM_000213.5:c.2591T>C MANE Select	NP_000204.3:p.Leu864Pro
NM_001005731.3:c.2591T>C	NP_001005731.1:p.Leu864Pro
NM_001321123.2:c.2591T>C	NP_001308052.1:p.Leu864Pro